A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5078277



Internal ID8187291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32625208..32646260hg38UCSC Ensembl
Innerchr6:32592985..32614037hg19UCSC Ensembl
Innerchr6:32700963..32722015hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3821053
hg1921053
hg1821053
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421999
Supporting Variants
SamplesNA19681
Known GenesHLA-DQA1
MethodSNP array
AnalysisTo assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.
PlatformNot specified
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)essv5078277
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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