A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv814e212



Internal ID22783741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:32016644..34109857hg38UCSC Ensembl
chr16:32027965..33912324hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg382093214
hg191884360
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3570531, esv3570487, esv3570520
Samples400059SV, 400107MJ, 401086MD, 401354KM, 400494ML
Known GenesHERC2P4, LOC390705, RNU6-76P, SLC6A10P, TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D
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)dgv814e212
Frequency
Sample Size873
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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