A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34714



Internal ID12644064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:40910..317370hg38UCSC Ensembl
Innerchr9:40910..317370hg19UCSC Ensembl
Innerchr9:30910..307370hg18UCSC Ensembl
Innerchr9:30910..307370hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38276461
hg19276461
hg18276461
hg17276461
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv253e55
Supporting Variantsessv6979578, essv6986896, essv6979576, essv6986895, essv6979577
SamplesNA18572
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)esv34714
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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