A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34376



Internal ID12643729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31391871..31489801hg38UCSC Ensembl
Innerchr6:31359648..31457578hg19UCSC Ensembl
Innerchr6:31467627..31565557hg18UCSC Ensembl
Innerchr6:31467627..31565557hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3897931
hg1997931
hg1897931
hg1797931
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv215e55
Supporting Variantsessv6989179, essv6980496, essv6987800, essv6980495
SamplesNA19202
Known GenesHCG26, HCP5, MICA
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34376
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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