A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34317



Internal ID12643670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:47356689..47638568hg38UCSC Ensembl
Innerchr16:47390600..47672479hg19UCSC Ensembl
Innerchr16:45948101..46229980hg18UCSC Ensembl
Innerchr16:45948101..46229980hg17UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38281880
hg19281880
hg18281880
hg17281880
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6987026, essv6990452, essv6980181
SamplesNA18967
Known GenesITFG1, PHKB
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)esv34317
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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