A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582548



Internal ID18710746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16593075..16602331hg38UCSC Ensembl
Innerchr17:16496389..16505645hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg389257
hg199257
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9812748, essv9812749, essv9812750, essv9812747
Samples401285HN, 400595CP, 401931JL, 401700BN
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)esv3582548
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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