A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751909



Internal ID12985461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:15509226..15675362hg38UCSC Ensembl
Innerchr20:15489871..15656007hg19UCSC Ensembl
Innerchr20:15437871..15604007hg18UCSC Ensembl
Innerchr20:15437871..15604007hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38166137
hg19166137
hg18166137
hg17166137
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988456, essv6985675, essv6981830, essv6981831
SamplesBEC_491
Known GenesMACROD2
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)esv2751909
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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