A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275341



Internal ID348247
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585634, essv2586169
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)esv275341
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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