A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275173



Internal ID1393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:4276615..4276872hg38UCSC Ensembl
Outerchr12:4276426..4277055hg38UCSC Ensembl
Innerchr12:4385781..4386038hg19UCSC Ensembl
Outerchr12:4385592..4386221hg19UCSC Ensembl
Innerchr12:4256042..4256299hg18UCSC Ensembl
Outerchr12:4255853..4256482hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38630
hg19630
hg18630
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585473, essv2585296
Samples
Known GenesCCND2
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275173
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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