Ensembl Variation - Data description

We aggregate data from a number of public resources and enhance their utility by addtional annotation.

  • Data imported from public resources includes:
    • Variants (SNPs, in-dels, insertions, deletions, ...)
    • Structural variants (copy number variation, tandem duplication, inversion, ...)
    • Probes for copy number variations
    • Alleles frequencies
    • Genotypes
    • Phenotypes
    • Citations (extracted from dbSNP submissions and text mining performed by EPMC and UCSC)

The following pages provide more detail on the available data types: