A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752263



Internal ID12639129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67258711..67876258hg38UCSC Ensembl
Innerchr8:68170946..68788493hg19UCSC Ensembl
Innerchr8:68333500..68951047hg18UCSC Ensembl
Innerchr8:68333500..68951047hg17UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38617548
hg19617548
hg18617548
hg17617548
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986267, essv6986268, essv6982809, essv6988587, essv6982808
SamplesBEC_596
Known GenesARFGEF1, CPA6
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)esv2752263
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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