A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585490



Internal ID347069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2646081..2647808hg38UCSC Ensembl
Outerchr4:2645404..2648210hg38UCSC Ensembl
Innerchr4:2647808..2649535hg19UCSC Ensembl
Outerchr4:2647131..2649937hg19UCSC Ensembl
Innerchr4:2617606..2619333hg18UCSC Ensembl
Outerchr4:2616929..2619735hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg382807
hg192807
hg182807
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275488
Supporting Variants
Samples
Known GenesFAM193A
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585490
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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