Variant DetailsVariant: esv3581684 | Internal ID | 18363196 | | Landmark | | | Location Information | | | Cytoband | 15q21.1 | | Allele length | | Assembly | Allele length | | hg38 | 10998 | | hg19 | 10998 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv738e212 | | Supporting Variants | essv9808633, essv9808603, essv9808680, essv9808597, essv9808636, essv9808646, essv9808595, essv9808672, essv9808649, essv9808602, essv9808671, essv9808608, essv9808591, essv9808592, essv9808676, essv9808658, essv9808618, essv9808582, essv9808652, essv9808686, essv9808678, essv9808583, essv9808662, essv9808664, essv9808604, essv9808682, essv9808635, essv9808607, essv9808654, essv9808626, essv9808619, essv9808683, essv9808670, essv9808628, essv9808679, essv9808625, essv9808580, essv9808615, essv9808594, essv9808606, essv9808669, essv9808586, essv9808675, essv9808584, essv9808593, essv9808663, essv9808667, essv9808613, essv9808687, essv9808656, essv9808673, essv9808660, essv9808659, essv9808639, essv9808605, essv9808601, essv9808589, essv9808623, essv9808657, essv9808641, essv9808650, essv9808620, essv9808627, essv9808598, essv9808661, essv9808645, essv9808614, essv9808668, essv9808622, essv9808629, essv9808624, essv9808665, essv9808617, essv9808638, essv9808611, essv9808609, essv9808630, essv9808674, essv9808642, essv9808590, essv9808647, essv9808653, essv9808616, essv9808684, essv9808681, essv9808631, essv9808596, essv9808651, essv9808581, essv9808600, essv9808648, essv9808640, essv9808637, essv9808585, essv9808685, essv9808634, essv9808612, essv9808587 | | Samples | 401799DP, 401459HF, 400911GA, 401706BJ, 400649PS, 400063BR, 400455SJ, 400917CG, 400336BG, 401261HD, 401380OL, 400626FC, 400468OB, 400970VE, 401415CB, 401518VK, 400852WJ, 401927SK, 400449PK, 401093VL, 400897MD, 400199SA, 401824MM, 401468RL, 400277LM, 401857VG, 401030GI, 400953MR, 400347VJ, 400360SM, 400893ZE, 402028BD, 401687LR, 400773GS, 400203NA, 400526DR, 400022WA, 400460DM, 400749VW, 400356MC, 400650RM, 401831TW, 400385LJ, 402061PI, 400478WE, 401532LJ, 400579HJ, 401646MC, 401620BA, 401192MJ, 400002HK, 400733SW, 400282RA, 401050GS, 400763BT, 401725MR, 400615RI, 400302HW, 401900RJ, 400738WM, 400040CN, 401477ST, 401230NL, 401563TK, 401730MS, 401326LI, 401346FJ, 401952UH, 401311GL, 401017SC, 400603CJ, 400248JO, 401334DH, 400201PK, 401361GG, 401496SL, 400881GS, 401844ZD, 401295HB, 401661HD, 400267GD, 400044HS, 401681MS, 400106PC, 401607LL, 400084DM, 401040KM, 400213DB, 400079AP, 401053MF, 400209BS, 401576WC, 401510DG, 401066MM, 400138LA, 400923OA, 401246HH, 400704LC | | Known Genes | SHF | | 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) | esv3581684
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 98 | | Observed Complex | 0 | | Frequency | n/a |
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