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Resource Name
Ensembl Variation
RRID:SCR_001630 RRID Copied      
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Ensembl Variation (RRID:SCR_001630)
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Resource Information

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: production service resource, service resource, database, data or information resource, data analysis service, analysis 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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This resource

is used by

MONARCH Initiative

is related to

dbSNP

is related to

Database of Genomic Variants Archive (DGVa)

is related to

PubMed

is related to

Animal QTLdb

is related to

OMIA - Online Mendelian Inheritance in Animals

has parent organization

Ensembl

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Data and Source Information