Variant DetailsVariant: dgv2310e212 | Internal ID | 22785237 | | Landmark | | | Location Information | | | Cytoband | Xq21.1 | | Allele length | | Assembly | Allele length | | hg38 | 56800 | | hg19 | 56850 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | esv3574071, esv3574085, esv3574073, esv3574080, esv3574072, esv3574078, esv3574068, esv3574082 | | Samples | 400316SL, 401706BJ, 400599CP, 400424LN, 401292ER, 400926LJ, 400439IM, 401005BL, 401146US, 400821FE, 400114GR, 400917CG, 400889CM, 40031BA, 400626FC, 401962BK, 401074CM, 400683EC, 400429YF, 401321CE, 401299ST, 400141CC, 401183HP, 400655WB, 400595CP, 401845MJ, 401603HH, 401824MM, 401434VN, 400277LM, 401536BD, 401030GI, 400953MR, 400937OR, 400558BL, 400245SJ, 400523GB, 400379BB, 400131CM, 402062KR, 401695BT, 400688FL, 400148MS, 400022WA, 401538NS, 401832MC, 400871CM, 400356MC, 401965TG, 401038LN, 400385LJ, 402061PI, 400564SN, 400478WE, 400333CC, 400729HC, 400582WS, 401646MC, 400270BD, 401620BA, 400218WK, 400843FL, 400413FJ, 400983PV, 400763BT, 400352CA, 401331LJ, 401085LA, 401714BM, 401251WN, 400791GC, 400070PC, 400702PA, 400064WJ, 401717LP, 400240HJ, 401594MP, 400960TN, 400093BL, 400375KA, 400381CA, 401326LI, 401813DN, 401630MK, 400681MC, 400547BS, 401017SC, 400006DK, 400888MS, 400249BC, 400211BJ, 401981GF, 400978JG, 400248JO, 400362TV, 401011PJ, 400520FM, 400354TJ, 400474GF, 401700BN, 400274TL, 400795CL, 400030WD, 401334DH, 400837HN, 400728PB, 401595BL, 400458LS, 400722OM, 401608GE, 400601WC, 400845ML, 400295PS, 401552BK, 400863SS, 400759FV, 400128MJ, 400328LM, 4000046CJ, 400044HS, 401166WJ, 401143LK, 401215MJ, 400719TM, 401135CS, 400879DS, 401817MC, 401681MS, 401829FJ, 401728WK, 401250WD, 400084DM, 402023EC, 400266BA, 401153HS, 401932GN, 401053MF, 400300SD, 400012CJ, 400238BB, 400091BS, 400923OA | | 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) | dgv2310e212
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 142 | | Observed Complex | 0 | | Frequency | n/a |
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