Variant DetailsVariant: esv3574068 | Internal ID | 18702266 | | Landmark | | | Location Information | | | Cytoband | Xq21.1 | | Allele length | | Assembly | Allele length | | hg38 | 53785 | | hg19 | 53835 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv2310e212 | | Supporting Variants | essv9826323, essv9826305, essv9826334, essv9826407, essv9826412, essv9826340, essv9826341, essv9826315, essv9826371, essv9826352, essv9826345, essv9826374, essv9826363, essv9826306, essv9826386, essv9826416, essv9826349, essv9826338, essv9826307, essv9826382, essv9826361, essv9826367, essv9826409, essv9826303, essv9826300, essv9826364, essv9826370, essv9826312, essv9826326, essv9826380, essv9826389, essv9826384, essv9826411, essv9826346, essv9826406, essv9826347, essv9826316, essv9826337, essv9826390, essv9826351, essv9826298, essv9826417, essv9826362, essv9826398, essv9826414, essv9826408, essv9826330, essv9826415, essv9826327, essv9826358, essv9826373, essv9826368, essv9826339, essv9826392, essv9826331, essv9826329, essv9826350, essv9826324, essv9826354, essv9826321, essv9826395, essv9826369, essv9826319, essv9826404, essv9826360, essv9826397, essv9826342, essv9826318, essv9826401, essv9826381, essv9826376, essv9826335, essv9826372, essv9826400, essv9826309, essv9826391, essv9826357, essv9826353, essv9826413, essv9826379, essv9826325, essv9826336, essv9826402, essv9826393, essv9826359, essv9826405, essv9826332, essv9826308, essv9826320, essv9826356, essv9826403, essv9826375, essv9826317, essv9826394, essv9826348, essv9826396, essv9826383 | | Samples | 400316SL, 401706BJ, 400424LN, 401292ER, 400926LJ, 400439IM, 400821FE, 400114GR, 400917CG, 400889CM, 401962BK, 401074CM, 400429YF, 401321CE, 401299ST, 401183HP, 400655WB, 400595CP, 401824MM, 400277LM, 401030GI, 400953MR, 400245SJ, 400379BB, 402062KR, 401695BT, 400148MS, 401538NS, 401832MC, 401965TG, 400385LJ, 400564SN, 400478WE, 400333CC, 400729HC, 400582WS, 400270BD, 400218WK, 400843FL, 400983PV, 400763BT, 400352CA, 401331LJ, 401085LA, 401714BM, 400702PA, 400064WJ, 400240HJ, 401594MP, 400960TN, 401326LI, 401813DN, 401630MK, 400681MC, 400547BS, 401017SC, 400888MS, 400249BC, 400211BJ, 400978JG, 400248JO, 400362TV, 401011PJ, 400520FM, 400354TJ, 400474GF, 401700BN, 400274TL, 400795CL, 400030WD, 401334DH, 400728PB, 401595BL, 400722OM, 401608GE, 400845ML, 400295PS, 401552BK, 400759FV, 400128MJ, 400328LM, 4000046CJ, 401143LK, 401215MJ, 401135CS, 400879DS, 401681MS, 401728WK, 401250WD, 400084DM, 402023EC, 400266BA, 401153HS, 401932GN, 401053MF, 400300SD, 400238BB | | 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) | esv3574068
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 97 | | Observed Complex | 0 | | Frequency | n/a |
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