A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12338n54



Internal ID22780233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:131446702..131566427hg38UCSC Ensembl
chr8:132458949..132578674hg19UCSC Ensembl
chr8:132528131..132647856hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38119726
hg19119726
hg18119726
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv612323, nsv612321, nsv612322
SamplesHGDP01279, HGDP00688
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12338n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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