A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv779e212



Internal ID20149235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2037225..2038968hg38UCSC Ensembl
chr16:2087226..2088969hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381744
hg191744
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3581935, esv3581934, esv3581936
Samples400439IM, 401819BS, 400917CG, 400429YF, 401841OB, 400148MS, 401914PR, 400712GC, 401628GC
Known GenesSLC9A3R2
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)dgv779e212
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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