A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752117



Internal ID12638983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31385552..31489801hg38UCSC Ensembl
Innerchr6:31353329..31457578hg19UCSC Ensembl
Innerchr6:31461308..31565557hg18UCSC Ensembl
Innerchr6:31461308..31565557hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38104250
hg19104250
hg18104250
hg17104250
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv214e55
Supporting Variantsessv6987536, essv6987537, essv6984231, essv6988773, essv6984232
SamplesBEC_814
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)esv2752117
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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