A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv778e212



Internal ID20149234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1831071..1834086hg38UCSC Ensembl
chr16:1881072..1884087hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg383016
hg193016
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3581931, esv3581930, esv3581929, esv3581932
Samples401503MJ, 400449PK, 400738WM, 401623SN, 400354TJ, 401016IT, 401295HB, 401786WD, 402073LQ, 400782IE, 401482CB
Known GenesFAHD1, MEIOB
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)dgv778e212
Frequency
Sample Size873
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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