A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568178



Internal ID18696376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36836815..36839701hg38UCSC Ensembl
Innerchr21:38209115..38212001hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg382887
hg192887
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1269e212
Supporting Variantsessv9820326, essv9820325, essv9820328, essv9820330, essv9820323, essv9820318, essv9820337, essv9820331, essv9820332, essv9820321, essv9820335, essv9820327, essv9820319, essv9820329, essv9820320, essv9820334, essv9820336, essv9820324, essv9820317
Samples401021SC, 401459HF, 400132HN, 400574MA, 400230TB, 401321CE, 401030GI, 401906DT, 401239PR, 401125LM, 400496BL, 401825TH, 400249BC, 401200BD, 401861GG, 400879DS, 400177SJ, 400890IT, 401180GR
Known GenesHLCS
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)esv3568178
Frequency
Sample Size873
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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