About Ensembl Variation
The Ensembl Variation database stores areas of the genome that differ between individual genomes ("variants") and, where available, associated disease and phenotype information.
There are different types of variants for several species:
- single nucleotide polymorphisms (SNPs)
- short nucleotide insertions and/or deletions
- longer variants classified as structural variants (including CNVs)
Explore the links below to learn more about Ensembl Variation:
Data access and tools
Phenotype data
Examples
For several different species in Ensembl, we import variant data (SNPs, CNVs, allele frequencies, genotypes, etc) from a variety of sources (e.g. dbSNP). Imported variants and alleles are subjected to a quality control process to flag suspect data.
We classify the variants into different classes and calculate the predicted consequence(s) of the variant and we have also created variant sets to help people retrieve a specific group of variants from a particular dataset.
In human, we calculate the linkage disequilibrium for each variant, by population.
See some examples of imported data on the Ensembl website (Human):
