Variant DetailsVariant: esv3577788 | Internal ID | 18705986 | | Landmark | | | Location Information | | | Cytoband | 1p36.11 | | Allele length | | Assembly | Allele length | | hg38 | 9775 | | hg19 | 9775 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv26e212 | | Supporting Variants | essv9826088, essv9827532, essv9830754, essv9828088, essv9829643, essv9827755, essv9825088, essv9827977, essv9824422, essv9824310, essv9829865, essv9826310, essv9826421, essv9824533, essv9828421, essv9827421, essv9826977, essv9829199, essv9825310, essv9830532, essv9829310, essv9830310, essv9824644, essv9831310, essv9831865, essv9831421, essv9829754, essv9827643, essv9827199, essv9831754, essv9830643, essv9826755, essv9825199, essv9825644, essv9831199, essv9826532, essv9827088, essv9828977, essv9830199, essv9824755, essv9829977, essv9825866, essv9827866, essv9829532, essv9829088, essv9825977, essv9828310, essv9825755, essv9831532, essv9825421, essv9830976, essv9831643, essv9830865, essv9826866, essv9831088, essv9828199, essv9827310, essv9826644, essv9826199, essv9830088, essv9830421, essv9828532, essv9824866, essv9831976, essv9832087, essv9828754, essv9828643, essv9829421, essv9825533, essv9824977, essv9828866 | | Samples | 401482CB, 401021SC, 400075MR, 400359OR, 400927BD, 400063BR, 401212HJ, 401819BS, 400852WJ, 401151RJ, 400625FT, 401721CP, 401733CG, 401603HH, 401674DD, 400277LM, 400797ST, 401030GI, 401136LB, 401551MB, 401258PC, 400674CA, 400066MA, 401869BG, 400882DD, 400320RN, 401165SB, 401766MR, 400564SN, 400478WE, 401133JG, 400344DR, 400107MJ, 400198MD, 401732HW, 400763BT, 400007RG, 401714BM, 401691HA, 401251WN, 401230NL, 401853WR, 400285FA, 401210PB, 401278DM, 401862AN, 401952UH, 400681MC, 400854SG, 401493HC, 401410BJ, 400177CG, 400444MM, 401361GG, 401203MP, 400732MA, 401496SL, 400158FB, 401315HK, 401847RK, 400677HD, 401135CS, 401797LS, 400271SR, 400849SH, 401266HM, 400108BJ, 402023EC, 401932GN, 401480PG, 400243CK | | Known Genes | NIPAL3 | | 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) | esv3577788
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 71 | | Observed Complex | 0 | | Frequency | n/a |
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