A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34763



Internal ID12644113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:112621052..112819173hg38UCSC Ensembl
Innerchr9:115383332..115581453hg19UCSC Ensembl
Innerchr9:114423153..114621274hg18UCSC Ensembl
Innerchr9:112462887..112661008hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38198122
hg19198122
hg18198122
hg17198122
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv262e55
Supporting Variantsessv6980564, essv6990497, essv6988977, essv6980563, essv6986022
SamplesNA19209
Known GenesINIP, KIAA1958, SNX30
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)esv34763
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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