Variant DetailsVariant: dgv1293e212 | Internal ID | 20149749 | | Landmark | | | Location Information | | | Cytoband | 22q11.21 | | Allele length | | Assembly | Allele length | | hg38 | 13900 | | hg19 | 13900 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | esv3568282, esv3568284, esv3568283 | | Samples | 401806DL, 400063BR, 400926LJ, 401212HJ, 400821FE, 400114GR, 401734PG, 40031BA, 400626FC, 401972BA, 400949AM, 401927SK, 401899MB, 400625FT, 401721CP, 400199SA, 401824MM, 401368WR, 400643LD, 400545EW, 401355CD, 400953MR, 400379BB, 400155CW, 401634CH, 401281BP, 401926MR, 401297KC, 401006ES, 401780BB, 401672FD, 400307HW, 401766MR, 400817MB, 401831TW, 401495NR, 401994BD, 400333CC, 401773AM, 401620BA, 400218WK, 400577MK, 401726LW, 400038CK, 400416KA, 400870KC, 400070PC, 401834CB, 400285FA, 401026AM, 401694SG, 401804FG, 400967PK, 401822TL, 401348RB, 401519SA, 400082SD, 401968HL, 401879HJ, 401326LI, 400265LK, 401506LK, 401606CG, 400361HC, 402054BD, 402001SR, 401892MJ, 401414CR, 400639RP, 400249BC, 400524NJ, 401919MD, 401200BD, 400571WV, 400721DJ, 401359HF, 400671PP, 400542EG, 401898DS, 400770MA, 401847RK, 401010HT, 401413RG, 401143LK, 401056TJ, 401372RR, 400177SJ, 401628GC, 401836SI, 401254AE, 401246HH, 401482CB, 401362ME | | Known Genes | PPIL2, YPEL1 | | 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) | dgv1293e212
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 93 | | Observed Complex | 0 | | Frequency | n/a |
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