A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34630



Internal ID12643980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:2244835..2383744hg38UCSC Ensembl
Innerchr20:2225481..2364390hg19UCSC Ensembl
Innerchr20:2173481..2312390hg18UCSC Ensembl
Innerchr20:2173481..2312390hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38138910
hg19138910
hg18138910
hg17138910
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979373, essv6979372, essv6979371, essv6986845, essv6986844
SamplesNA18537
Known GenesTGM3, TGM6
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34630
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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