A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581929



Internal ID18363441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1831571..1834086hg38UCSC Ensembl
Innerchr16:1881572..1884087hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382516
hg192516
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv778e212
Supporting Variantsessv9809756, essv9809751, essv9809757, essv9809752, essv9809753
Samples400738WM, 401623SN, 401786WD, 402073LQ, 400782IE
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)esv3581929
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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