A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979373



Internal ID12633375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:2258364..2373544hg38UCSC Ensembl
Innerchr20:2239010..2354190hg19UCSC Ensembl
Innerchr20:2187010..2302190hg18UCSC Ensembl
Innerchr20:2187010..2302190hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38115181
hg19115181
hg18115181
hg17115181
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)essv6979373
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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