A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585467



Internal ID347046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:15472556..15472790hg38UCSC Ensembl
Outerchr3:15471562..15474188hg38UCSC Ensembl
Innerchr3:15514063..15514297hg19UCSC Ensembl
Outerchr3:15513069..15515695hg19UCSC Ensembl
Innerchr3:15489067..15489301hg18UCSC Ensembl
Outerchr3:15488073..15490699hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg382627
hg192627
hg182627
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275345
Supporting Variants
Samples
Known GenesCOLQ
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585467
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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