A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275025



Internal ID347931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:4332665..4335576hg38UCSC Ensembl
Outerchr12:4332539..4353339hg38UCSC Ensembl
Innerchr12:4441831..4444742hg19UCSC Ensembl
Outerchr12:4441705..4462505hg19UCSC Ensembl
Innerchr12:4312092..4315003hg18UCSC Ensembl
Outerchr12:4311966..4332766hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3820801
hg1920801
hg1820801
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585239, essv2585483
Samples
Known GenesC12orf5
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275025
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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