A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275292



Internal ID1512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:4279992..4280028hg38UCSC Ensembl
Outerchr12:4279366..4280171hg38UCSC Ensembl
Innerchr12:4389158..4389194hg19UCSC Ensembl
Outerchr12:4388532..4389337hg19UCSC Ensembl
Innerchr12:4259419..4259455hg18UCSC Ensembl
Outerchr12:4258793..4259598hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38806
hg19806
hg18806
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586142
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)esv275292
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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