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URL: http://uswest.ensembl.org/info/docs/variation/index.html
Proper Citation: Ensembl Variation (RRID:SCR_001630)
Description: 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.
Abbreviations: Ensembl Variation
Synonyms: ensembl variation
Resource Type: analysis service resource, data analysis service, data or information resource, production service resource, database, service resource
Defining Citation: PMID:23203987, PMID:20562413, PMID:20459810, PMID:20459805
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
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