A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv839e212



Internal ID22783766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55770855..55788519hg38UCSC Ensembl
chr16:55804767..55822431hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3817665
hg1917665
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582225, esv3582242, esv3582243, esv3582222
Samples401235IA, 400970VE, 401403TD, 400937OR, 400503HD, 400203NA, 401495NR, 400344DR, 400582WS, 401594MP, 400914ER, 401606CG, 401262RR, 400818BL, 400971MK
Known GenesCES1P1
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)dgv839e212
Frequency
Sample Size873
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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