A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274993



Internal ID347899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:115905593..115905636hg38UCSC Ensembl
Outerchr3:115903384..115906009hg38UCSC Ensembl
Innerchr3:115624440..115624483hg19UCSC Ensembl
Outerchr3:115622231..115624856hg19UCSC Ensembl
Innerchr3:117107130..117107173hg18UCSC Ensembl
Outerchr3:117104921..117107546hg18UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg382626
hg192626
hg182626
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585419, essv2585335
Samples
Known GenesLSAMP
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv274993
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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