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:

• Data availability
• Data sources
• Population allele frequencies and genotypes
• Variant sets