A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275482



Internal ID1702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:41219718..41219889hg38UCSC Ensembl
Outerchr3:41216358..41220035hg38UCSC Ensembl
Innerchr3:41261209..41261380hg19UCSC Ensembl
Outerchr3:41257849..41261526hg19UCSC Ensembl
Innerchr3:41236213..41236384hg18UCSC Ensembl
Outerchr3:41232853..41236530hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg383678
hg193678
hg183678
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585552, essv2585294
Samples
Known GenesCTNNB1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275482
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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