A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv806e212



Internal ID19008014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:21565482..21830135hg38UCSC Ensembl
chr16:21576803..21841456hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38264654
hg19264654
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582095, esv3582097, esv3582096
Samples400758KP, 400247CL, 400084DM
Known GenesIGSF6, METTL9, OTOA, RRN3P1
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)dgv806e212
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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