A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979372



Internal ID12633373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:2250438..2373547hg38UCSC Ensembl
Innerchr20:2231084..2354193hg19UCSC Ensembl
Innerchr20:2179084..2302193hg18UCSC Ensembl
Innerchr20:2179084..2302193hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38123110
hg19123110
hg18123110
hg17123110
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34630
Supporting Variants
SamplesNA18537
Known GenesTGM3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979372
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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