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    Genome Reference Consortium Issues

              Sequence and assembly

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              • Contigs
                Track showing underlying assembly contigs.
              • Sequence
                Track showing sequence in both directions. Only displayed at 1Kb and below.

              Markers

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                • Primary assembly mapping
                  Mappings between primary assembly and alternate loci or patches.
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                    Genes and transcripts

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                    • Primary Gene Annotations from GENCODE 19
                      The GENCODE set is the gene set for human and mouse. GENCODE Primary is a subset of representative transcripts (splice variants).
                    • CCDS set
                      Protein coding sequences agreed upon by the Consensus Coding Sequence project, or CCDS.

                    Prediction transcripts

                      LRG

                          mRNA and protein alignments

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                          • EST cluster (Unigene)
                            Positions of UniGene sequences along the genome. These are determined using TBLASTN of Genscan predictions against UniGene sequences.
                          • Human cDNAs (RefSeq)
                            Human cDNAs from NCBI RefSeq are aligned to the genome using GeneWise.
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                              Variation

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                              • gnomAD - short variants (SNPs and indels)
                                Variants reported by the Genome Aggregation Database
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                                HapMap

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                                  • All phenotype-associated - short variants (SNPs and indels)
                                    Variants that have been associated with a phenotype or a disease
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                                    Enable/disable all Phenotype annotations
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                                        Failed variants

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                                            Enable/disable all Structural variants
                                            • 1000 Genomes 3 - All (structural variants) (SV - 1000 Genomes 3 - All)
                                              Variants genotyped by the 1000 Genomes project (phase 3)

                                            Somatic mutations

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                                                Regulation

                                                Regulatory features

                                                Motif features

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                                                      Comparative genomics

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                                                        • Age of Base
                                                          Timing of the most recent mutation as determined by inter-species whole genome alignments. Each base pair in which the human reference genome differs by substitution from one of its inferred ancestral genomes is colored in either grey (event prior to the primate branch), blue (primate specific), red (human specific, fixed variant), or yellow (human specific segregating variant, i.e. SNP). Clicking on a mutation position reveals the sub-tree of species which have inherited the same mutation from their common ancestor. It also reveals a score that represents the age of the mutation in arbitrary units, and determines the intensity of the coloring. The more recent the mutation, the lower the score and the darker the color.
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                                                          Genome targeting

                                                            Oligo probes

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                                                              Repeat regions

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                                                                Information and decorations

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                                                                • Chromosome bands
                                                                  Cytogenetic bands
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                                                                • Variant Legend
                                                                • Structural Variant Legend
                                                                • Alignment Difference Legend
                                                                • Gene Legend
                                                                • Regulation Legend
                                                                • Methylation Legend
                                                                • Motif Feature Legend
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                                                                • Age of Base Legend
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                                                                • Information ()
                                                                  Details of the region shown in the image

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