Variant DetailsVariant: esv3574086 | Internal ID | 18355598 | | Landmark | | | Location Information | | | Cytoband | 18q21.31 | | Allele length | | Assembly | Allele length | | hg38 | 4137 | | hg19 | 4137 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv9815964, essv9815962, essv9815935, essv9816005, essv9815994, essv9815948, essv9815941, essv9815967, essv9815963, essv9815999, essv9815972, essv9816001, essv9815996, essv9815939, essv9815960, essv9815988, essv9815959, essv9815969, essv9816016, essv9815938, essv9815981, essv9815970, essv9815934, essv9815979, essv9815942, essv9816013, essv9815954, essv9815980, essv9815992, essv9816003, essv9815947, essv9815983, essv9816010, essv9815968, essv9815949, essv9816007, essv9816008, essv9815984, essv9815946, essv9816004, essv9816012, essv9815951, essv9815993, essv9816015, essv9815974, essv9815995, essv9815975, essv9815985, essv9815976, essv9815965, essv9815998, essv9815931, essv9815991, essv9815982, essv9815940, essv9815973, essv9815952, essv9816014, essv9815936, essv9815997, essv9816002, essv9815950, essv9815945, essv9816006, essv9815953, essv9815943, essv9815930, essv9815932, essv9815971, essv9815961, essv9815957, essv9815937, essv9816009, essv9815990, essv9815956, essv9815986, essv9815929, essv9815987, essv9815958 | | Samples | 401292ER, 400984LD, 400880TM, 401196CR, 400574MA, 401742KB, 401498HH, 401966SR, 401927SK, 401457WK, 401845MJ, 401824MM, 401434VN, 400641WJ, 401857VG, 401426WD, 400948EV, 401355CD, 400453LN, 401582GG, 401258PC, 401173AI, 401064FR, 400298ME, 401975VD, 401297KC, 401695BT, 401687LR, 401239PR, 400882DD, 400022WA, 400583HS, 400121PL, 400206SC, 400609FJ, 401773AM, 400507VD, 401013GJ, 400843FL, 401732HW, 400352CA, 401251WN, 401939GD, 401623SN, 400496BL, 400375KA, 401879HJ, 401326LI, 400800MW, 401067BD, 400371GA, 401711WS, 402074RR, 400450FG, 401359HF, 401334DH, 401391PJ, 401535RJ, 401898DS, 401496SL, 400770MA, 401016IT, 401844ZD, 401268PS, 401149VA, 401858TP, 400769SL, 400072GR, 400996MC, 400271SR, 401735LE, 402042BJ, 401628GC, 400581VJ, 401932GN, 400291VJ, 401993HM, 400668TD, 400532MH | | Known Genes | ALPK2 | | 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) | esv3574086
| | Frequency | | Sample Size | 873 | | Observed Gain | 79 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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