A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5126002



Internal ID8140820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32641521..32664223hg38UCSC Ensembl
Innerchr6:32609298..32632000hg19UCSC Ensembl
Innerchr6:32717276..32739978hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3822703
hg1922703
hg1822703
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421710
Supporting Variants
SamplesNA18861
Known GenesHLA-DQA1, HLA-DQB1
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)essv5126002
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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