A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275109



Internal ID348015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:115278687..115283664hg38UCSC Ensembl
Outerchr12:115278675..115283720hg38UCSC Ensembl
Innerchr12:115716492..115721469hg19UCSC Ensembl
Outerchr12:115716480..115721525hg19UCSC Ensembl
Innerchr12:114200875..114205852hg18UCSC Ensembl
Outerchr12:114200863..114205908hg18UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg385046
hg195046
hg185046
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585143
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)esv275109
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer