A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275401



Internal ID1621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:41228025..41238318hg38UCSC Ensembl
Outerchr3:41227493..41238356hg38UCSC Ensembl
Innerchr3:41269516..41279809hg19UCSC Ensembl
Outerchr3:41268984..41279847hg19UCSC Ensembl
Innerchr3:41244520..41254813hg18UCSC Ensembl
Outerchr3:41243988..41254851hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3810864
hg1910864
hg1810864
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585683, essv2585794
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)esv275401
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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