A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275209



Internal ID1429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:54684030..54684439hg38UCSC Ensembl
Outerchr4:54683619..54684452hg38UCSC Ensembl
Innerchr4:55550196..55550605hg19UCSC Ensembl
Outerchr4:55549785..55550618hg19UCSC Ensembl
Innerchr4:55244953..55245362hg18UCSC Ensembl
Outerchr4:55244542..55245375hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38834
hg19834
hg18834
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585156, essv2586048
Samples
Known GenesKIT
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275209
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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