A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982437



Internal ID12973727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:65076941..65388245hg38UCSC Ensembl
Innerchr8:65989176..66300480hg19UCSC Ensembl
Innerchr8:66151730..66463034hg18UCSC Ensembl
Innerchr8:66151730..66463034hg17UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg38311305
hg19311305
hg18311305
hg17311305
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752261
Supporting Variants
SamplesBEC_442
Known GenesLINC00251
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982437
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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