A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv816e212



Internal ID22783743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:32027373..32881973hg38UCSC Ensembl
chr16:32038694..32893294hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38854601
hg19854601
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582156, esv3582157, esv3582158
Samples400737GC, 400502GS, 400586RD
Known GenesHERC2P4, LOC390705, 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)dgv816e212
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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