Variant DetailsVariant: esv3575253 | Internal ID | 18703451 | | Landmark | | | Location Information | | | Cytoband | 2p14 | | Allele length | | Assembly | Allele length | | hg38 | 6972 | | hg19 | 6972 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1128e212 | | Supporting Variants | essv9826521, essv9827011, essv9826011, essv9825911, essv9826466, essv9826177, essv9827077, essv9826277, essv9826789, essv9825900, essv9826366, essv9826233, essv9826022, essv9826855, essv9826955, essv9826377, essv9826422, essv9826044, essv9826767, essv9826111, essv9826477, essv9827066, essv9826678, essv9826399, essv9826166, essv9826211, essv9825944, essv9826155, essv9826255, essv9827044, essv9826944, essv9826833, essv9826933, essv9826700, essv9826610, essv9826978, essv9826533, essv9826966, essv9827111, essv9826333, essv9826778, essv9826577, essv9826922, essv9827089, essv9826689, essv9826299, essv9826911, essv9825922, essv9825989, essv9827144, essv9826744, essv9826311, essv9826599, essv9826544, essv9826144, essv9826621, essv9826133, essv9826066, essv9826077, essv9826000, essv9826433, essv9827000, essv9825966, essv9827166, essv9826711, essv9826410, essv9826878, essv9826499, essv9826222, essv9826188, essv9825978, essv9826388, essv9826355, essv9827155, essv9826811, essv9826089, essv9826900, essv9826455, essv9826566, essv9825933, essv9826989, essv9826800, essv9827200, essv9826055, essv9825955, essv9826645, essv9827122, essv9826656, essv9827033, essv9826488, essv9826822, essv9826033, essv9826200, essv9826322, essv9826722, essv9827177, essv9826510, essv9826889, essv9826867, essv9827188, essv9826344, essv9826244, essv9826122, essv9827133, essv9827022, essv9826844, essv9826288, essv9826444, essv9826756, essv9826733, essv9826632, essv9826588, essv9827055, essv9827100, essv9826555, essv9826667, essv9826100, essv9826266 | | Samples | 401102RD, 400287BP, 400364SS, 400063BR, 400880TM, 401852SK, 400534ME, 400739SS, 400268SY, 401052BM, 400634MP, 400432VA, 400377WJ, 401956DQ, 401235IA, 401503MJ, 401415CB, 401742KB, 401427CB, 401151RJ, 400730SH, 400553PP, 400325BE, 401096SL, 401733CG, 400897MD, 400059SV, 401582GG, 400620MT, 400245SJ, 401500OM, 401190WC, 400241CP, 401551MB, 401019MP, 400528LR, 401990PR, 400631SJ, 400588BE, 401908YM, 400148MS, 400022WA, 401566DD, 400121PL, 401766MR, 400292LP, 400427SD, 401831TW, 400032RC, 401133JG, 401746WW, 400653GP, 400186WC, 401377MA, 401050GS, 401979TB, 401386WA, 400302HW, 401655DC, 401437MJ, 400533BB, 400870KC, 401594MP, 400496BL, 401423BA, 400082SD, 401968HL, 401618HR, 401475MK, 401879HJ, 4000657TM, 401942MP, 400686BM, 401619BT, 401606CG, 400361HC, 401075MN, 401889FR, 400242TP, 400248JO, 401039PA, 401795SP, 400571WV, 401884WJ, 401112LG, 401700BN, 401514BA, 401922MW, 400444MM, 401616WP, 401361GG, 400624RJ, 401898DS, 400722OM, 400483DP, 401016IT, 400471YS, 402009WP, 401025SM, 400501SJ, 400267GD, 400930MK, 401056TJ, 400323AA, 402073LQ, 400792RE, 401912HD, 400130HA, 401250WD, 400084DM, 400013TA, 400079AP, 401612HB, 400021ME, 400255CD, 400152MR, 401246HH, 400982BS | | Known Genes | SLC1A4 | | 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) | esv3575253
| | Frequency | | Sample Size | 873 | | Observed Gain | 118 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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