A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585296



Internal ID189
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
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275173
Supporting Variants
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)essv2585296
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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