EVA — European Variation Archive
Overview
The European Variation Archive (EVA) is an open-access repository for all types of genetic variant data from all species, operated by EMBL-EBI. Unlike EGA, which stores controlled-access individual-level genomic data, EVA stores variant-level data, meaning the aggregated, anonymised catalogue of genetic variants identified in studies, which can be shared without privacy restrictions. EVA is the primary European archive for variant submissions and is part of an international network alongside NCBI’s dbSNP (short variants) and dbVar (structural variants), exchanging data to provide global coverage.
What EVA Stores
EVA accepts variant data across multiple categories. Short variants are stored in VCF format and cover single nucleotide polymorphisms (SNPs) and small insertions or deletions (indels). Structural variants include copy number variants (CNVs), inversions, and translocations. Somatic variants come from cancer and disease studies. Clinical variants carry clinical significance annotations cross-referenced to ClinVar. Species coverage is broad, with human data as the primary focus alongside model organisms, livestock, and plants.
Relationship to dbSNP and ClinVar
EVA, dbSNP (NCBI), and ClinVar together form the international variant data ecosystem. EVA is the European submission point for open-access variant data of all types. dbSNP (NCBI) is the US counterpart, assigning each short variant a stable reference number (its rs identifier). ClinVar (NCBI) provides clinical interpretation of variants and pathogenicity classifications. EVA and dbSNP exchange data through the International Nucleotide Sequence Database Collaboration (INSDC). Under that agreement the major sequence archives mirror each other’s submissions. EVA also cross-references ClinVar for variants with clinical significance.
Connections
- operatedBy: EMBL
- isPartOf: ELIXIR
- relatedTo: dbSNP (NCBI’s US counterpart for open-access short variant archiving)
- relatedTo: dbVar (EMBL-EBI co-accessions structural variants with dbVar through its Database of Genomic Variants archive, DGVa)
- relatedTo: DDBJ (INSDC network partner for variant data exchange)
- relatedTo: ClinVar (cross-referenced for variants with clinical significance annotations)
- relatedTo: EGA (controlled-access counterpart for individual-level sensitive genomic data)