A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585239



Internal ID346818
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
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275025
Supporting Variants
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)essv2585239
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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