A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11939n54



Internal ID22779834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:8455500..8597021hg38UCSC Ensembl
chr8:8313010..8454531hg19UCSC Ensembl
chr8:8350420..8491941hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38141522
hg19141522
hg18141522
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610175, nsv610173, nsv610176, nsv610174, nsv610177
SamplesHGDP00946, HGDP01234, HGDP00112, HGDP01215, HGDP00967
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11939n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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