Variant DetailsVariant: dgv2066e212 | Internal ID | 22784993 | | Landmark | | | Location Information | | | Cytoband | 8p11.22 | | Allele length | | Assembly | Allele length | | hg38 | 175055 | | hg19 | 175055 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | esv3576554, esv3576561, esv3576546, esv3576541, esv3576550, esv3576547, esv3576544, esv3576558, esv3576548, esv3576553, esv3576562, esv3576563, esv3576564, esv3576545, esv3576559, esv3576555, esv3576543, esv3576542, esv3576552 | | Samples | 401033DJ, 401806DL, 400908PJ, 401196CR, 400204SC, 400268SY, 400789KV, 400821FE, 400114GR, 401275SJ, 401734PG, 400906BR, 400429YF, 401911FL, 402067KS, 401299ST, 400083TG, 401841OB, 401302LJ, 400949AM, 400852WJ, 401899MB, 401491BB, 400730SH, 401856GC, 401820SD, 400855BD, 400059SV, 400493KH, 401582GG, 400620MT, 401500OM, 400528LR, 400674CA, 401792KR, 400675HC, 400482MD, 400743LS, 401263HS, 400588BE, 400337HG, 402038MR, 400688FL, 400148MS, 400073HT, 401184MM, 401664SD, 401550SP, 401104DM, 400650RM, 401038LN, 400609FJ, 401495NR, 400478WE, 401746WW, 400653GP, 400579HJ, 401997HB, 400502GS, 400507VD, 400186WC, 400733SW, 400413FJ, 401785MJ, 401725MR, 401175FA, 400038CK, 400738WM, 401870FB, 401084TD, 402033WD, 401477ST, 400977SC, 400064WJ, 402052ZA, 400240HJ, 401652HL, 401526WB, 400093BL, 401862AN, 401348RB, 401519SA, 400543CK, 400381CA, 401968HL, 401318AV, 401930GD, 401630MK, 401478RD, 400361HC, 401729AC, 401444LD, 401262RR, 400006DK, 400047DS, 400639RP, 401875FG, 401039PA, 400846MC, 401587RC, 400598DA, 400354TJ, 401700BN, 400378HL, 400329HJ, 401677MM, 401334DH, 401203MP, 400542EG, 400770MA, 400158FB, 401016IT, 400601WC, 402009WP, 400156WT, 401315HK, 401295HB, 400376SJ, 402051AF, 400501SJ, 401413RG, 401314MK, 400410CD, 400971MK, 400859SC, 401858TP, 400769SL, 400328LM, 401240ML, 400930MK, 400811SK, 401372RR, 401135CS, 401763SG, 400177SJ, 401912HD, 401781SL, 401728WK, 401735LE, 400833BB, 400261RN, 402042BJ, 401284NA, 400178RH, 400012CJ, 401510DG, 400021ME, 400890IT, 401180GR, 401102RD, 400801HS, 401021SC, 400911GA, 400927BD, 400364SS, 401162TM, 401221LD, 400987FB, 401212HJ, 401005BL, 401489CB, 401146US, 400634MP, 400737GC, 400594VJ, 401956DQ, 401077VC, 401487FW, 401235IA, 400626FC, 400622SJ, 400683EC, 401415CB, 401117NA, 400956AM, 401079HJ, 401403TD, 401183HP, 401427CB, 401927SK, 401845MJ, 401733CG, 400897MD, 400199SA, 401674DD, 401556KR, 400545EW, 401355CD, 400425SL, 401022ML, 401308LD, 401136LB, 400360SM, 401390DG, 401019MP, 401990PR, 400893ZE, 400827MM, 401926MR, 402028BD, 401687LR, 400526DR, 400022WA, 401672FD, 401165SB, 400121PL, 400292LP, 401831TW, 400385LJ, 400374LB, 400353ML, 401994BD, 400333CC, 400717BD, 401801LA, 401029SD, 401393JW, 400582WS, 400113LD, 401646MC, 401620BA, 400218WK, 401376RD, 401979TB, 401386WA, 400383HL, 400577MK, 400615RI, 401331LJ, 400515ZG, 400236DB, 402063WM, 401499JR, 401274PA, 401091HS, 401617KM, 401210PB, 400122PL, 401278DM, 400758KP, 401333MM, 400043HC, 401879HJ, 401859GS, 401419SW, 401326LI, 400265LK, 401084BD, 401346FJ, 401504RJ, 401952UH, 402022SM, 400888MS, 401414CR, 401493HC, 401067BD, 400014SL, 401919MD, 401011PJ, 400422PN, 401369GR, 401884WJ, 401112LG, 400518MS, 400788PV, 400943DV, 400818BL, 401057SS, 400168HC, 400722OM, 401608GE, 400053LE, 400712GC, 401844ZD, 401881TJ, 400677HD, 401288LD, 401012TP, 402060PD, 400235MP, 401438HT, 401149VA, 400996MC, 400044HS, 401143LK, 401809FU, 402073LQ, 400879DS, 400792RE, 401817MC, 401105WS, 401354KM, 401607LL, 400173KP, 400108BJ, 401040KM, 400581VJ, 401453OL, 400661AD, 401341TS, 400300SD, 400209BS, 401612HB, 401993HM, 400255CD, 400138LA, 401395OP, 400668TD, 400494ML, 400704LC, 400645KM | | Known Genes | ADAM3A, ADAM5 | | 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) | dgv2066e212
| | Frequency | | Sample Size | 873 | | Observed Gain | 311 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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