A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275506



Internal ID348412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:18450505..18453889hg38UCSC Ensembl
Outerchr5:18449540..18458429hg38UCSC Ensembl
Innerchr5:18450614..18453998hg19UCSC Ensembl
Outerchr5:18449649..18458538hg19UCSC Ensembl
Innerchr5:18486371..18489755hg18UCSC Ensembl
Outerchr5:18485406..18494295hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg388890
hg198890
hg188890
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585316, essv2585735
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)esv275506
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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