A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986744



Internal ID12979307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:150686290..150870101hg38UCSC Ensembl
Innerchr2:151542804..151726615hg19UCSC Ensembl
Innerchr2:151251050..151434861hg18UCSC Ensembl
Innerchr2:151368312..151552123hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38183812
hg19183812
hg18183812
hg17183812
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35134
Supporting Variants
SamplesNA12760
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986744
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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