A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34346



Internal ID12643699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:112598225..112819173hg38UCSC Ensembl
Innerchr9:115360505..115581453hg19UCSC Ensembl
Innerchr9:114400326..114621274hg18UCSC Ensembl
Innerchr9:112440060..112661008hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38220949
hg19220949
hg18220949
hg17220949
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv262e55
Supporting Variantsessv6986030, essv6980584, essv6988978, essv6980586, essv6980585
SamplesNA19211
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)esv34346
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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