Variant DetailsVariant: esv3584297 | Internal ID | 18712495 | | Landmark | | | Location Information | | | Cytoband | 2q34 | | Allele length | | Assembly | Allele length | | hg38 | 5936 | | hg19 | 5936 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1204e212 | | Supporting Variants | essv9836607, essv9836678, essv9836638, essv9836619, essv9836624, essv9836620, essv9836657, essv9836670, essv9836627, essv9836642, essv9836667, essv9836635, essv9836656, essv9836636, essv9836672, essv9836653, essv9836634, essv9836614, essv9836648, essv9836680, essv9836625, essv9836652, essv9836664, essv9836659, essv9836679, essv9836615, essv9836655, essv9836666, essv9836633, essv9836612, essv9836639, essv9836681, essv9836675, essv9836637, essv9836662, essv9836646, essv9836613, essv9836663, essv9836660, essv9836630, essv9836645, essv9836604, essv9836669, essv9836629, essv9836606, essv9836682, essv9836622, essv9836631, essv9836668, essv9836674, essv9836609, essv9836684, essv9836677, essv9836611, essv9836671, essv9836617, essv9836618, essv9836650, essv9836628, essv9836640, essv9836641, essv9836683, essv9836658, essv9836651, essv9836649, essv9836608, essv9836616, essv9836626, essv9836673, essv9836647, essv9836623, essv9836661, essv9836605, essv9836644 | | Samples | 401636WR, 401162TM, 400987FB, 400534ME, 401005BL, 400268SY, 401146US, 400132HN, 400876OG, 400626FC, 400429YF, 400625FT, 400553PP, 400077EB, 401603HH, 400199SA, 400797ST, 400545EW, 400225CJ, 400245SJ, 400523GB, 400298ME, 400674CA, 400718PS, 400606HW, 401297KC, 401935TM, 401252AE, 400871CM, 400650RM, 400338SR, 400836LK, 401133JG, 401791FG, 401234MB, 400002HK, 400733SW, 400041LJ, 401448BJ, 401347DH, 401085LA, 400236DB, 400791GC, 401494PD, 401853WR, 401210PB, 400758KP, 400043HC, 400076LC, 401563TK, 401943KA, 401504RJ, 400014SL, 400571WV, 401696CG, 400671PP, 401958MF, 400235MP, 400586RD, 400719TM, 401829FJ, 400106PC, 401912HD, 401105WS, 401354KM, 400130HA, 401607LL, 401154BR, 400833BB, 400213DB, 401053MF, 400209BS, 400238BB, 401993HM | | Known Genes | | | 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) | esv3584297
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 74 | | Observed Complex | 0 | | Frequency | n/a |
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