Variant DetailsVariant: dgv1309e212 | Internal ID | 20149765 | | Landmark | | | Location Information | | | Cytoband | 22q12.1 | | Allele length | | Assembly | Allele length | | hg38 | 7474 | | hg19 | 7474 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | esv3568332, esv3568330, esv3568329, esv3568334, esv3568333 | | Samples | 401040KM, 400213DB, 400178RH, 400150SS, 401882CR, 401612HB, 401517PR, 400152MR, 400091BS, 401490TL, 401111LH, 400782IE, 400645KM, 400269DA, 401497PR, 401482CB, 400801HS, 401021SC, 400920MK, 400911GA, 400308SP, 400145BL, 400984LD, 400618GC, 401196CR, 400204SC, 401852SK, 400789KV, 400432VA, 401819BS, 401673DM, 400512LR, 400429YF, 401518VK, 401719RL, 401491BB, 401096SL, 400077EB, 401949MN, 400199SA, 401468RL, 401602PR, 401022ML, 400620MT, 400953MR, 400558BL, 401190WC, 401253MC, 400241CP, 401936BA, 401551MB, 400893ZE, 401906DT, 402062KR, 401860TJ, 400051MR, 401695BT, 401252AE, 400292LP, 400609FJ, 401818PC, 401746WW, 400717BD, 400653GP, 402056KD, 401997HB, 401609MB, 400502GS, 400507VD, 400109LJ, 401739BJ, 400843FL, 401873BK, 401979TB, 401175FA, 400302HW, 400038CK, 401085LA, 401655DC, 401027KW, 401251WN, 401834CB, 401623SN, 401230NL, 400829MR, 401419SW, 401506LK, 400844GP, 401619BT, 401504RJ, 400705KK, 401311GL, 401262RR, 400888MS, 401812HG, 401067BD, 400319HT, 401307VR, 400999HR, 400721DJ, 401874DJ, 401778CB, 40050SB, 401176BD, 400430KV, 401616WP, 401334DH, 400624RJ, 401428LD, 401608GE, 400103BN, 400053LE, 401844ZD, 402051AF, 400677HD, 401958MF, 401288LD, 401786WD, 401438HT, 400586RD, 400996MC, 401166WJ, 401152MV, 401817MC, 401728WK | | Known Genes | TFIP11 | | 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) | dgv1309e212
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 125 | | Observed Complex | 0 | | Frequency | n/a |
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