A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585634



Internal ID347213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:16909489..16911273hg38UCSC Ensembl
Outerchr4:16907445..16912143hg38UCSC Ensembl
Innerchr4:16911112..16912896hg19UCSC Ensembl
Outerchr4:16909068..16913766hg19UCSC Ensembl
Innerchr4:16520210..16521994hg18UCSC Ensembl
Outerchr4:16518166..16522864hg18UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg384699
hg194699
hg184699
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275341
Supporting Variants
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)essv2585634
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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