A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv518e212



Internal ID22783445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:115110370..115114793hg38UCSC Ensembl
chr12:115548175..115552598hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg384424
hg194424
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3580480, esv3580481
Samples401299ST, 400360SM, 401566DD, 401630MK, 400788PV
Known Genes
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)dgv518e212
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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