A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12332n54



Internal ID22780227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130357985..130358897hg38UCSC Ensembl
chr8:131370231..131371143hg19UCSC Ensembl
chr8:131439413..131440325hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38913
hg19913
hg18913
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv612288, nsv612287
Samples
Known GenesASAP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12332n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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