A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988587



Internal ID12628885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67381082..67860493hg38UCSC Ensembl
Innerchr8:68293317..68772728hg19UCSC Ensembl
Innerchr8:68455871..68935282hg18UCSC Ensembl
Innerchr8:68455871..68935282hg17UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38479412
hg19479412
hg18479412
hg17479412
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752263
Supporting Variants
SamplesBEC_596
Known GenesCPA6
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988587
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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