A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34347



Internal ID12643700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:90089111..90166898hg38UCSC Ensembl
Innerchr8:91101339..91179126hg19UCSC Ensembl
Innerchr8:91170515..91248302hg18UCSC Ensembl
Innerchr8:91170515..91248302hg17UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3877788
hg1977788
hg1877788
hg1777788
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980208, essv6980207
SamplesNA18968
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34347
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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