A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv272e212



Internal ID22783199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:89178903..89190337hg38UCSC Ensembl
chr10:90938660..90950094hg19UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg3811435
hg1911435
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3579055, esv3579057, esv3579058, esv3579056
Samples401207DA, 400801HS, 401799DP, 401212HJ, 400105BB, 400132HN, 400737GC, 400574MA, 401491BB, 400899NK, 400077EB, 401603HH, 400643LD, 400453LN, 401975VD, 401924ST, 401184MM, 400368SD, 400817MB, 401029SD, 400113LD, 401691HA, 401623SN, 401494PD, 401210PB, 401318AV, 401618HR, 401084BD, 400603CJ, 400177CG, 400454RE, 401496SL, 401608GE, 400881GS, 400712GC, 400128MJ, 400205SP, 400323AA, 401763SG, 401728WK, 401177SL, 400508RD, 400213DB, 401111LH
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)dgv272e212
Frequency
Sample Size873
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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