A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986750



Internal ID12632692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:16446553..17005533hg38UCSC Ensembl
Innerchr8:16304062..16863042hg19UCSC Ensembl
Innerchr8:16348433..16907413hg18UCSC Ensembl
Innerchr8:16348433..16907413hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38558981
hg19558981
hg18558981
hg17558981
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34335
Supporting Variants
SamplesNA12802
Known GenesFGF20
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986750
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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