A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568022



Internal ID18349534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54035926..54042054hg38UCSC Ensembl
Innerchr20:52652465..52658593hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg386129
hg196129
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1251e212
Supporting Variantsessv9819841, essv9819840, essv9819827, essv9819848, essv9819856, essv9819847, essv9819833, essv9819838, essv9819842, essv9819857, essv9819839, essv9819851, essv9819835, essv9819845, essv9819831, essv9819850, essv9819852, essv9819836, essv9819830, essv9819855, essv9819853, essv9819846, essv9819844, essv9819837, essv9819849, essv9819834, essv9819828, essv9819829
Samples401400NP, 400634MP, 400114GR, 400429YF, 401403TD, 400730SH, 400899NK, 400629BM, 400545EW, 400528LR, 401297KC, 401239PR, 400368SD, 400292LP, 401155ML, 400836LK, 401347DH, 401027KW, 400265LK, 402054BD, 402001SR, 400248JO, 400450FG, 400943DV, 401958MF, 400128MJ, 400173KP, 400013TA
Known GenesBCAS1
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)esv3568022
Frequency
Sample Size873
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer