A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275070



Internal ID347976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:116629001..116629001hg38UCSC Ensembl
Outerchr3:116622068..116629829hg38UCSC Ensembl
Innerchr3:116347848..116347848hg19UCSC Ensembl
Outerchr3:116340915..116348676hg19UCSC Ensembl
Innerchr3:117830538..117830538hg18UCSC Ensembl
Outerchr3:117823605..117831366hg18UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg387762
hg197762
hg187762
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585151, essv2585771
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)esv275070
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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