A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752303



Internal ID12639169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:40910..277989hg38UCSC Ensembl
Innerchr9:40910..277989hg19UCSC Ensembl
Innerchr9:30910..267989hg18UCSC Ensembl
Innerchr9:30910..267989hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38237080
hg19237080
hg18237080
hg17237080
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv253e55
Supporting Variantsessv6983129, essv6983127, essv6983128, essv6983126
SamplesBEC_544
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)esv2752303
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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