A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585316



Internal ID346895
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
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275506
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)essv2585316
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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