A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582596



Internal ID18710794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:29370601..29383945hg38UCSC Ensembl
Innerchr17:27697619..27710963hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3813345
hg1913345
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv904e212
Supporting Variantsessv9812923, essv9812930, essv9812935, essv9812931, essv9812932, essv9812929, essv9812925, essv9812919, essv9812920, essv9812940, essv9812938, essv9812921, essv9812928, essv9812937, essv9812934, essv9812939, essv9812926, essv9812924, essv9812936, essv9812927
Samples400316SL, 401465TB, 401673DM, 400574MA, 400449PK, 401824MM, 400343BD, 400749VW, 401532LJ, 400186WC, 400663MD, 400738WM, 400518MS, 400274TL, 401359HF, 400863SS, 400177SJ, 401781SL, 401735LE, 401246HH
Known Genes
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)esv3582596
Frequency
Sample Size873
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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