A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982597



Internal ID12628545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67332354..67734966hg38UCSC Ensembl
Innerchr8:68244589..68647201hg19UCSC Ensembl
Innerchr8:68407143..68809755hg18UCSC Ensembl
Innerchr8:68407143..68809755hg17UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38402613
hg19402613
hg18402613
hg17402613
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752264
Supporting Variants
SamplesBEC_569
Known GenesARFGEF1, CPA6
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982597
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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