A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982596



Internal ID12628548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67332354..67711503hg38UCSC Ensembl
Innerchr8:68244589..68623738hg19UCSC Ensembl
Innerchr8:68407143..68786292hg18UCSC Ensembl
Innerchr8:68407143..68786292hg17UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38379150
hg19379150
hg18379150
hg17379150
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)essv6982596
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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