Variant DetailsVariant: esv3567986 | Internal ID | 18696184 | | Landmark | | | Location Information | | | Cytoband | 20q13.12 | | Allele length | | Assembly | Allele length | | hg38 | 4731 | | hg19 | 4731 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1246e212 | | Supporting Variants | essv9819676, essv9819674, essv9819648, essv9819663, essv9819613, essv9819592, essv9819627, essv9819586, essv9819668, essv9819637, essv9819630, essv9819600, essv9819591, essv9819631, essv9819606, essv9819638, essv9819619, essv9819590, essv9819634, essv9819665, essv9819576, essv9819583, essv9819664, essv9819646, essv9819641, essv9819670, essv9819611, essv9819596, essv9819605, essv9819620, essv9819659, essv9819585, essv9819587, essv9819640, essv9819615, essv9819617, essv9819584, essv9819595, essv9819654, essv9819667, essv9819623, essv9819624, essv9819649, essv9819662, essv9819626, essv9819581, essv9819647, essv9819582, essv9819658, essv9819604, essv9819618, essv9819645, essv9819636, essv9819657, essv9819661, essv9819635, essv9819594, essv9819598, essv9819629, essv9819651, essv9819579, essv9819672, essv9819639, essv9819578, essv9819589, essv9819614, essv9819642, essv9819653, essv9819675, essv9819612, essv9819603, essv9819673, essv9819633, essv9819607, essv9819625, essv9819597, essv9819602, essv9819671, essv9819628, essv9819660, essv9819650, essv9819616, essv9819580, essv9819622, essv9819601, essv9819593, essv9819609, essv9819652, essv9819608, essv9819656, essv9819669 | | Samples | 400247CL, 400359OR, 401110GJ, 400926LJ, 401052BM, 401077VC, 401074CM, 401911FL, 401415CB, 400230TB, 401330RR, 401117NA, 401899MB, 401931JL, 401698SB, 401602PR, 400545EW, 400425SL, 400658BW, 401808PS, 401239PR, 400231LP, 401672FD, 400749VW, 400033KC, 401832MC, 400292LP, 401550SP, 401831TW, 400338SR, 400836LK, 401532LJ, 401646MC, 401739BJ, 400060MC, 401785MJ, 401085LA, 400870KC, 402033WD, 401540NA, 401091HS, 400783MJ, 400207HN, 401026AM, 400960TN, 401526WB, 401822TL, 401513KC, 400265LK, 401813DN, 400123WN, 401762SD, 400124FR, 401346FJ, 400681MC, 400249BC, 401067BD, 401981GF, 401711WS, 401580CA, 400520FM, 401884WJ, 401696CG, 400695PH, 400518MS, 401410BJ, 400795CL, 400177CG, 400451kh, 400168HC, 401277RA, 401552BK, 401894PD, 400501SJ, 401149VA, 401265CB, 400586RD, 400328LM, 400205SP, 401607LL, 400315DA, 400108BJ, 400508RD, 400266BA, 400291VJ, 400164SS, 402024BB, 400152MR, 401497PR, 401482CB, 401362ME | | 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) | esv3567986
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 91 | | Observed Complex | 0 | | Frequency | n/a |
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