A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2586048



Internal ID347627
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
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275209
Supporting Variants
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)essv2586048
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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