A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274908



Internal ID347868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:10725229..10728575hg38UCSC Ensembl
Outerchr4:10722433..10729440hg38UCSC Ensembl
Innerchr4:10726853..10730199hg19UCSC Ensembl
Outerchr4:10724057..10731064hg19UCSC Ensembl
Innerchr4:10335951..10339297hg18UCSC Ensembl
Outerchr4:10333155..10340162hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg387008
hg197008
hg187008
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585852, essv2586172
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)esv274908
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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