Sequence variation

The majority of sequence variants in Ensembl are single nucleotide polymorphisms (SNPs), insertions and deletions (indels) imported from NCBI dbSNP. For human SNPs in particular, we aim to keep current with dbSNP, updating these with every Ensembl release (every 2-3 months). Projects submitting their variants to dbSNP include individual labs, the 1000 genomes project, ExAC and gnomAD. Small sequence variants are mapped onto the reference genome, and effects on Ensembl transcripts are determined. Larger structural variations (such as copy number variation) are also viewable on the genomic sequence.  These include structural variants from dGVA and somatic mutations.


Determine the effect of your variants on the Ensembl transcript set using the Variant Effect Predictor tool.

Genotype information for human variants is imported from dbSNP, and reflects data from individual submissions, HapMap, and the 1000 Genomes project. Disease and phenotype associations are imported from projects such as the GWAS catalog, OMIM and EGA


Learn how to navigate variation views in this section.  Read more about variation sources in Ensembl.