A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751913



Internal ID12638779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:41794342..42640681hg38UCSC Ensembl
Innerchr20:40422982..41269321hg19UCSC Ensembl
Innerchr20:39856396..40702735hg18UCSC Ensembl
Innerchr20:39856396..40702735hg17UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38846340
hg19846340
hg18846340
hg17846340
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982426, essv6988535, essv6986168, essv6986167
SamplesBEC_44
Known GenesPTPRT
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)esv2751913
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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