A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275236



Internal ID348142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:39743601..39746704hg38UCSC Ensembl
Outerchr21:39738355..39747484hg38UCSC Ensembl
Innerchr21:41115528..41118631hg19UCSC Ensembl
Outerchr21:41110282..41119411hg19UCSC Ensembl
Innerchr21:40037398..40040501hg18UCSC Ensembl
Outerchr21:40032152..40041281hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg389130
hg199130
hg189130
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586094, essv2585793
Samples
Known GenesIGSF5
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275236
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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