A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988808



Internal ID12977023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:16813701..16939172hg38UCSC Ensembl
Innerchr8:16671210..16796681hg19UCSC Ensembl
Innerchr8:16715581..16841052hg18UCSC Ensembl
Innerchr8:16715581..16841052hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38125472
hg19125472
hg18125472
hg17125472
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752245
Supporting Variants
SamplesBEC_708
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988808
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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