A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275475



Internal ID348381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:6339465..6355091hg38UCSC Ensembl
Outerchr20:6337059..6355355hg38UCSC Ensembl
Innerchr20:6320112..6335738hg19UCSC Ensembl
Outerchr20:6317706..6336002hg19UCSC Ensembl
Innerchr20:6268112..6283738hg18UCSC Ensembl
Outerchr20:6265706..6284002hg18UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg3818297
hg1918297
hg1818297
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586185, essv2585661
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275475
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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