A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572515



Internal ID18700713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:11851110..11853761hg38UCSC Ensembl
Innerchr8:11708619..11711270hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg382652
hg192652
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2039e212
Supporting Variantsessv9787020, essv9787024, essv9787025, essv9787021, essv9787023, essv9787028, essv9787029, essv9787027, essv9787030, essv9787026
Samples400425SL, 400523GB, 401566DD, 401251WN, 401618HR, 400354TJ, 400444MM, 401295HB, 400246MG, 400164SS
Known GenesCTSB
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)esv3572515
Frequency
Sample Size873
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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