A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34610



Internal ID12643960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:40910..271132hg38UCSC Ensembl
Innerchr9:40910..271132hg19UCSC Ensembl
Innerchr9:30910..261132hg18UCSC Ensembl
Innerchr9:30910..261132hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38230223
hg19230223
hg18230223
hg17230223
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv253e55
Supporting Variantsessv6986901, essv6979591, essv6979593, essv6979592
SamplesNA18576
Known GenesC9orf66, CBWD1, DOCK8, FOXD4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34610
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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