A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585552



Internal ID445
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 loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275482
Supporting Variants
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)essv2585552
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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