A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12123n54



Internal ID22780018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:43169482..43937428hg38UCSC Ensembl
chr8:43024625..43792571hg19UCSC Ensembl
chr8:43143782..43911728hg18UCSC Ensembl
Cytoband8p11.1
Allele length
AssemblyAllele length
hg38767947
hg19767947
hg18767947
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv611148, nsv611144, nsv611146, nsv611145, nsv611149
SamplesHGDP00650, HGDP00258, HGDP00694, HGDP00776, HGDP00608, 1780862177_A
Known GenesHGSNAT, POTEA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12123n54
Frequency
Sample Size17421
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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