A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752264



Internal ID12985816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67332311..67734966hg38UCSC Ensembl
Innerchr8:68244546..68647201hg19UCSC Ensembl
Innerchr8:68407100..68809755hg18UCSC Ensembl
Innerchr8:68407100..68809755hg17UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38402656
hg19402656
hg18402656
hg17402656
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986208, essv6988557, essv6986207, essv6982596, essv6982597
SamplesBEC_569
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)esv2752264
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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