A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585335



Internal ID346914
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
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv274993
Supporting Variants
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)essv2585335
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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