A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275108



Internal ID348014
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585269, essv2585889
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)esv275108
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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