A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752301



Internal ID12639167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:40910..274606hg38UCSC Ensembl
Innerchr9:40910..274606hg19UCSC Ensembl
Innerchr9:30910..264606hg18UCSC Ensembl
Innerchr9:30910..264606hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38233697
hg19233697
hg18233697
hg17233697
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv253e55
Supporting Variantsessv6985527, essv6981280, essv6981281
SamplesBEC_376
Known GenesC9orf66, CBWD1, DOCK8, FOXD4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752301
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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