A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585889



Internal ID347468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:67588274..67588501hg38UCSC Ensembl
Outerchr3:67582996..67590482hg38UCSC Ensembl
Innerchr3:67638698..67638925hg19UCSC Ensembl
Outerchr3:67633420..67640906hg19UCSC Ensembl
Innerchr3:67721388..67721615hg18UCSC Ensembl
Outerchr3:67716110..67723596hg18UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg387487
hg197487
hg187487
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275108
Supporting Variants
Samples
Known GenesSUCLG2
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585889
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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