Variant DetailsVariant: dgv2229e212 | Internal ID | 20150685 | | Landmark | | | Location Information | | | Cytoband | Xp22.2 | | Allele length | | Assembly | Allele length | | hg38 | 12281 | | hg19 | 12281 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | esv3576781, esv3576785, esv3576782, esv3576786, esv3576784 | | Samples | 400247CL, 401706BJ, 400927BD, 400701MM, 401465TB, 401292ER, 400984LD, 400880TM, 401196CR, 400439IM, 401640WJ, 401489CB, 401385BB, 401285HN, 400572PJ, 401235IA, 400512LR, 401460LW, 401074CM, 401742KB, 401721CP, 400199SA, 401434VN, 401857VG, 400509CJ, 401308LD, 400523GB, 401258PC, 401975VD, 401281BP, 401792KR, 401297KC, 400482MD, 400051MR, 402064DC, 400337HG, 400503HD, 400134WK, 400073HT, 401401BA, 400320RN, 401184MM, 401766MR, 401838EN, 400650RM, 400385LJ, 400206SC, 400836LK, 400107MJ, 401732HW, 401437MJ, 400738WM, 401591BE, 401432SB, 401119DK, 401526WB, 401862AN, 400829MR, 401419SW, 401930GD, 400123WN, 401630MK, 401943KA, 401504RJ, 401478RD, 401444LD, 401311GL, 401262RR, 401075MN, 401493HC, 401919MD, 400422PN, 401874DJ, 400474GF, 401514BA, 401182OC, 400136DM, 401391PJ, 400451kh, 401535RJ, 401496SL, 400483DP, 400156WT, 401295HB, 401413RG, 401149VA, 401265CB, 4000046CJ, 400811SK, 401215MJ, 401372RR, 401354KM, 401458RT, 400266BA, 401453OL, 401612HB, 401480PG, 401517PR, 400942HR, 400782IE, 401180GR | | Known Genes | ZRSR2 | | 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) | dgv2229e212
| | Frequency | | Sample Size | 873 | | Observed Gain | 101 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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