A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12397n54



Internal ID22780292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:142572003..142612823hg38UCSC Ensembl
chr8:143653364..143694184hg19UCSC Ensembl
chr8:143650366..143691186hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3840821
hg1940821
hg1840821
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv612710, nsv612711
SamplesHGDP00607, HGDP00619
Known GenesARC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12397n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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