A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12930n54



Internal ID20146354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:133156364..133320327hg38UCSC Ensembl
chr9:136031751..136187163hg19UCSC Ensembl
chr9:135021572..135176984hg18UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38163964
hg19155413
hg18155413
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv615613, nsv615612
SamplesHGDP00545, HGDP00547
Known GenesABO, GBGT1, OBP2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12930n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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