A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275483



Internal ID348389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:48334676..48334893hg38UCSC Ensembl
Outerchr4:48334354..48336327hg38UCSC Ensembl
Innerchr4:48336693..48336910hg19UCSC Ensembl
Outerchr4:48336371..48338344hg19UCSC Ensembl
Innerchr4:48031450..48031667hg18UCSC Ensembl
Outerchr4:48031128..48033101hg18UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg381974
hg191974
hg181974
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586159
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)esv275483
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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