A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1159e212



Internal ID20149615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105767281..105773234hg38UCSC Ensembl
chr2:106383738..106389691hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg385954
hg195954
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3583997, esv3583998, esv3583999
Samples401636WR, 401033DJ, 400927BD, 400308SP, 401110GJ, 400145BL, 400987FB, 400554WB, 401385BB, 400572PJ, 400094RS, 400876OG, 400313DF, 401673DM, 401487FW, 401972BA, 401117NA, 401299ST, 401036WS, 401302LJ, 401457WK, 401931JL, 401249TP, 400897MD, 401434VN, 400347VJ, 400486LS, 400523GB, 401551MB, 400528LR, 401634CH, 402019MC, 400669LD, 400627CC, 400606HW, 401926MR, 401297KC, 401860TJ, 401869BG, 401239PR, 400773GS, 400073HT, 400526DR, 401832MC, 400121PL, 401965TG, 401596PJ, 401495NR, 401994BD, 401855RE, 400717BD, 401773AM, 401801LA, 401997HB, 401791FG, 401646MC, 401353BC, 401192MJ, 400218WK, 401448BJ, 401977ES, 401050GS, 400983PV, 401175FA, 401397WN, 401655DC, 400236DB, 401499JR, 400070PC, 400977SC, 401950MD, 401026AM, 401185LE, 401519SA, 400543CK, 401586RS, 401864CV, 401419SW, 401771OS, 400686BM, 401606CG, 400361HC, 402022SM, 401443JK, 400854SG, 401493HC, 400249BC, 400211BJ, 401875FG, 400524NJ, 400248JO, 401039PA, 401795SP, 401702GB, 401359HF, 400430KV, 400136DM, 400728PB, 401203MP, 400458LS, 400483DP, 400601WC, 400712GC, 400295PS, 400677HD, 401958MF, 401894PD, 401054VM, 400501SJ, 400996MC, 402008MC, 400323AA, 401763SG, 400271SR, 401781SL, 401728WK, 400173KP, 401153HS, 400291VJ, 400164SS, 400012CJ, 401612HB, 400540BM, 402024BB, 401480PG, 401254AE, 401993HM, 400138LA, 401395OP, 401246HH, 401497PR
Known GenesNCK2
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)dgv1159e212
Frequency
Sample Size873
Observed Gain0
Observed Loss131
Observed Complex0
Frequencyn/a


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