A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2586172



Internal ID347751
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
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv274908
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)essv2586172
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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