Variant DetailsVariant: esv3569423 | Internal ID | 18350935 | | Landmark | | | Location Information | | | Cytoband | 4q12 | | Allele length | | Assembly | Allele length | | hg38 | 17197 | | hg19 | 17197 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv9770861, essv9770884, essv9770934, essv9770851, essv9770920, essv9770873, essv9770899, essv9770926, essv9770883, essv9770875, essv9770857, essv9770951, essv9770868, essv9770929, essv9770864, essv9770918, essv9770886, essv9770941, essv9770863, essv9770942, essv9770946, essv9770901, essv9770892, essv9770908, essv9770950, essv9770887, essv9770852, essv9770904, essv9770921, essv9770948, essv9770905, essv9770927, essv9770938, essv9770909, essv9770891, essv9770872, essv9770923, essv9770949, essv9770931, essv9770915, essv9770893, essv9770919, essv9770877, essv9770858, essv9770903, essv9770914, essv9770925, essv9770894, essv9770913, essv9770885, essv9770862, essv9770939, essv9770895, essv9770943, essv9770947, essv9770880, essv9770879, essv9770849, essv9770912, essv9770865, essv9770896, essv9770881, essv9770874, essv9770935, essv9770888, essv9770930, essv9770869, essv9770928, essv9770910, essv9770860, essv9770850, essv9770870, essv9770856, essv9770917, essv9770924, essv9770882, essv9770854, essv9770890, essv9770937, essv9770932, essv9770906, essv9770876, essv9770940, essv9770936, essv9770902, essv9770847, essv9770871, essv9770897, essv9770907, essv9770853, essv9770898, essv9770859, essv9770945, essv9770916, essv9770848 | | Samples | 400920MK, 401110GJ, 400063BR, 401162TM, 400204SC, 400554WB, 400876OG, 400468OB, 400970VE, 400429YF, 401117NA, 400866RR, 400141CC, 400949AM, 400449PK, 401384BP, 400077EB, 401733CG, 401820SD, 401603HH, 400199SA, 400797ST, 401536BD, 400453LN, 401190WC, 401634CH, 401924ST, 402062KR, 401297KC, 400051MR, 401006ES, 400871CM, 400348DK, 400427SD, 401303FM, 400344DR, 401029SD, 400270BD, 400507VD, 400186WC, 401620BA, 400002HK, 400793BR, 400041LJ, 401050GS, 400983PV, 400763BT, 400577MK, 402063WM, 400533BB, 400070PC, 402033WD, 401494PD, 400285FA, 401594MP, 401804FG, 401318AV, 401864CV, 401730MS, 400050RL, 401311GL, 401812HG, 400603CJ, 401875FG, 400524NJ, 401580CA, 401369GR, 400721DJ, 400135DR, 400795CL, 400136DM, 400818BL, 400728PB, 400732MA, 400458LS, 400471YS, 402009WP, 401365DJ, 401611CD, 401010HT, 401571SD, 401149VA, 400769SL, 400586RD, 400323AA, 400792RE, 400271SR, 400177SJ, 400130HA, 401177SL, 400508RD, 401053MF, 400238BB, 401066MM, 400801HS | | Known Genes | FIP1L1 | | 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) | esv3569423
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 95 | | Observed Complex | 0 | | Frequency | n/a |
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