A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752304



Internal ID12639170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:40910..409398hg38UCSC Ensembl
Innerchr9:40910..409398hg19UCSC Ensembl
Innerchr9:30910..399398hg18UCSC Ensembl
Innerchr9:30910..399398hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38368489
hg19368489
hg18368489
hg17368489
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv254e55
Supporting Variantsessv6983291, essv6987442, essv6983862, essv6983861, essv6983290
SamplesBEC_635
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)esv2752304
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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