A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1368e212



Internal ID22784295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:37934862..37945439hg38UCSC Ensembl
chr3:37976353..37986930hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg3810578
hg1910578
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3568693, esv3568696
Samples401102RD, 400287BP, 400911GA, 400075MR, 400359OR, 401020DJ, 400649PS, 400364SS, 401212HJ, 400534ME, 401640WJ, 400789KV, 401986LC, 400821FE, 400917CG, 400594VJ, 400094RS, 40031BA, 401673DM, 401380OL, 400626FC, 400429YF, 400506GN, 401384BP, 400899NK, 401824MM, 401434VN, 400277LM, 400948EV, 401402EN, 400425SL, 400620MT, 400658BW, 400558BL, 400241CP, 400360SM, 401390DG, 400674CA, 400343BD, 400688FL, 400231LP, 401401BA, 400307HW, 400871CM, 401104DM, 400206SC, 400564SN, 401495NR, 401029SD, 400270BD, 400198MD, 400002HK, 400763BT, 401347DH, 401726LW, 401725MR, 401437MJ, 401499JR, 401274PA, 402033WD, 400838AM, 400768MN, 401125LM, 401357MH, 400285FA, 401526WB, 400967PK, 400375KA, 401318AV, 400994HJ, 401864CV, 401618HR, 401859GS, 401730MS, 401506LK, 401075MN, 401087SF, 400869BK, 401884WJ, 401696CG, 401259LS, 40050SB, 401922MW, 400030WD, 400454RE, 400728PB, 400624RJ, 400168HC, 401203MP, 400601WC, 402009WP, 401881TJ, 400501SJ, 400996MC, 401215MJ, 400719TM, 401817MC, 402023EC, 400266BA, 400213DB, 401341TS, 400012CJ, 401517PR, 401111LH
Known GenesCTDSPL
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)dgv1368e212
Frequency
Sample Size873
Observed Gain0
Observed Loss104
Observed Complex0
Frequencyn/a


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