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Ensembl Variation

Public database that stores areas of genome that differ between individual genomes (variants) and, where available, associated disease and phenotype information. Different types of variants for several species: single nucleotide polymorphisms (SNPs), short nucleotide insertions and/or deletions, and longer variants classified as structural variants (including CNVs). Effects of variants on the Ensembl transcripts and regulatory features for each species are predicted. You can run same analysis on your own data using Variant Effect Predictor. These data are integrated with other data sources in Ensembl, and can be accessed using the API or website. For several different species in Ensembl, they import variation data (SNPs, CNVs, allele frequencies, genotypes, etc) from a variety of sources (e.g. dbSNP). Imported variants and alleles are subjected to quality control process to flag suspect data. In human, they calculate linkage disequilibrium for each variant, by population.


Details

  • Resource Type: Resource, data analysis service, production service resource, analysis service resource, database, service resource, data or information resource
  • Keywords: genome, disease, phenotype, genomic variant, single nucleotide polymorphism nucleotide, insertion, deletion, structural variant, copy number variation, inversion, translocation, somatic variant, allele frequency, genotype, disease phenotype, inherited disease
  • Resource ID: SCR_001630
  • Proper Citation: (Ensembl Variation, RRID:SCR_001630)
  • Parent Organization: Ensembl
  • Related Condition:
  • Funding Agency:
  • Relation: related to: dbSNP, Database of Genomic Variants Archive (DGVa), PubMed, Animal QTLdb, OMIA - Online Mendelian Inheritance in Animals, used by: Monarch Initiative
  • Reference: PMID:20562413, PMID:20459805, PMID:20459810, PMID:23203987
  • Website Status: Last checked down
  • Alternate IDs: nlx_153897
  • Alternate URLs:
  • Old URLs:
  • v_uuid: 7603189d-7821-5be0-9457-c6f342237498
License URL:
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