A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982808



Internal ID12628893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67381082..67858435hg38UCSC Ensembl
Innerchr8:68293317..68770670hg19UCSC Ensembl
Innerchr8:68455871..68933224hg18UCSC Ensembl
Innerchr8:68455871..68933224hg17UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38477354
hg19477354
hg18477354
hg17477354
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)essv6982808
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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