A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752274



Internal ID12639140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:110170991..110438165hg38UCSC Ensembl
Innerchr9:112933271..113200445hg19UCSC Ensembl
Innerchr9:111973092..112240266hg18UCSC Ensembl
Innerchr9:110012826..110280000hg17UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38267175
hg19267175
hg18267175
hg17267175
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986169, essv6982428, essv6982429, essv6982427
SamplesBEC_44
Known GenesAKAP2, C9orf152, PALM2-AKAP2, SVEP1, TXN, TXNDC8
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)esv2752274
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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