A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275535



Internal ID348441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:115276758..115277365hg38UCSC Ensembl
Outerchr12:115276712..115278675hg38UCSC Ensembl
Innerchr12:115714563..115715170hg19UCSC Ensembl
Outerchr12:115714517..115716480hg19UCSC Ensembl
Innerchr12:114198946..114199553hg18UCSC Ensembl
Outerchr12:114198900..114200863hg18UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg381964
hg191964
hg181964
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585977, essv2585753
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275535
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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