A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34619



Internal ID12643969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31391871..31483699hg38UCSC Ensembl
Innerchr6:31359648..31451476hg19UCSC Ensembl
Innerchr6:31467627..31559455hg18UCSC Ensembl
Innerchr6:31467627..31559455hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3891829
hg1991829
hg1891829
hg1791829
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv215e55
Supporting Variantsessv6979126, essv6979127
SamplesNA15510
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)esv34619
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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