A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4563n54



Internal ID20137987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:61886496..62227459hg38UCSC Ensembl
chr15:62178695..62519658hg19UCSC Ensembl
chr15:59965987..60306950hg18UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg38340964
hg19340964
hg18340964
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv569646, nsv569643
SamplesHGDP00708, HGDP00707
Known GenesC2CD4A, C2CD4B, VPS13C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4563n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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