Variant DetailsVariant: esv3578200 | Internal ID | 18359712 | | Landmark | | | Location Information | | | Cytoband | 1q23.1 | | Allele length | | Assembly | Allele length | | hg38 | 9785 | | hg19 | 9785 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv9793111, essv9792700, essv9792611, essv9792944, essv9793077, essv9792645, essv9792955, essv9792267, essv9792367, essv9792911, essv9792678, essv9792656, essv9792933, essv9792545, essv9792245, essv9792900, essv9792489, essv9792966, essv9792889, essv9792833, essv9792844, essv9793044, essv9793100, essv9792445, essv9792589, essv9792789, essv9792400, essv9792456, essv9793000, essv9793089, essv9792478, essv9792511, essv9792467, essv9792356, essv9793122, essv9792778, essv9792922, essv9792978, essv9792667, essv9792334, essv9793033, essv9792556, essv9792378, essv9792278, essv9792223, essv9792534, essv9792989, essv9792434, essv9792855, essv9792201, essv9792822, essv9792345, essv9792500, essv9792389, essv9792867, essv9792289, essv9792722, essv9792800, essv9792522, essv9792567, essv9792878, essv9792767, essv9792234, essv9792411, essv9792811, essv9792578, essv9792423, essv9792733, essv9793055, essv9792256, essv9793011, essv9792300, essv9792633, essv9792600, essv9792312, essv9793066, essv9792622, essv9792323, essv9792711, essv9792744, essv9792756, essv9792689, essv9793022, essv9792212 | | Samples | 400920MK, 400247CL, 401706BJ, 401020DJ, 401005BL, 400105BB, 400594VJ, 401673DM, 400468OB, 401498HH, 401403TD, 400949AM, 401931JL, 400730SH, 401824MM, 401355CD, 400658BW, 401132CH, 400893ZE, 401281BP, 400718PS, 400627CC, 400606HW, 401860TJ, 400066MA, 400631SJ, 402065BG, 401690HA, 400231LP, 400127MD, 400374LB, 401855RE, 400341GL, 400113LD, 400107MJ, 400109LJ, 400442FE, 401448BJ, 400702PA, 400838AM, 401717LP, 400496BL, 401318AV, 401475MK, 400124FR, 401606CG, 401729AC, 400705KK, 401444LD, 401017SC, 401875FG, 401011PJ, 401580CA, 400319HT, 400520FM, 40050SB, 400770MA, 401428LD, 400376SJ, 400246MG, 402051AF, 400069CN, 400235MP, 400128MJ, 401571SD, 400769SL, 401567BD, 400996MC, 401056TJ, 401100SJ, 400879DS, 401797LS, 401543DC, 400291VJ, 401053MF, 400012CJ, 402024BB, 401517PR, 400942HR, 400255CD, 401395OP, 400923OA, 400494ML, 401246HH | | Known Genes | MRPL24, RRNAD1 | | Method | SNP array | | Analysis | We 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. | | Platform | Affymetrix CytoScan HD 2.7M array | | Comments | | | Reference | Uddin_et_al_2014 | | Pubmed ID | 25503493 | | Accession Number(s) | esv3578200
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 84 | | Observed Complex | 0 | | Frequency | n/a |
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