Variant DetailsVariant: esv3575318 | Internal ID | 18703516 | | Landmark | | | Location Information | | | Cytoband | 2q32.3 | | Allele length | | Assembly | Allele length | | hg38 | 21370 | | hg19 | 21370 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1201e212 | | Supporting Variants | essv9836355, essv9836325, essv9836292, essv9836439, essv9836474, essv9836308, essv9836381, essv9836319, essv9836392, essv9836409, essv9836294, essv9836453, essv9836428, essv9836327, essv9836445, essv9836322, essv9836481, essv9836473, essv9836450, essv9836425, essv9836383, essv9836286, essv9836482, essv9836300, essv9836457, essv9836477, essv9836406, essv9836458, essv9836379, essv9836362, essv9836323, essv9836347, essv9836418, essv9836478, essv9836429, essv9836472, essv9836370, essv9836455, essv9836344, essv9836372, essv9836336, essv9836420, essv9836470, essv9836391, essv9836360, essv9836359, essv9836340, essv9836441, essv9836452, essv9836364, essv9836305, essv9836407, essv9836394, essv9836279, essv9836412, essv9836357, essv9836356, essv9836339, essv9836402, essv9836468, essv9836464, essv9836280, essv9836358, essv9836326, essv9836348, essv9836331, essv9836317, essv9836423, essv9836295, essv9836414, essv9836449, essv9836334, essv9836433, essv9836456, essv9836436, essv9836311, essv9836341, essv9836285, essv9836451, essv9836401, essv9836367, essv9836471, essv9836446, essv9836374, essv9836309, essv9836408, essv9836335, essv9836431, essv9836293, essv9836397, essv9836393, essv9836301, essv9836461, essv9836411, essv9836297, essv9836338, essv9836427, essv9836389, essv9836328, essv9836424, essv9836422, essv9836361, essv9836290, essv9836462, essv9836380, essv9836378, essv9836371, essv9836403, essv9836466, essv9836426, essv9836316, essv9836460, essv9836324, essv9836415, essv9836463, essv9836437, essv9836390, essv9836382, essv9836366, essv9836350, essv9836313, essv9836430, essv9836302, essv9836442, essv9836416, essv9836368, essv9836342, essv9836296, essv9836404, essv9836413, essv9836400, essv9836369, essv9836333, essv9836419, essv9836315, essv9836320, essv9836480, essv9836304, essv9836483, essv9836448, essv9836440, essv9836346, essv9836385, essv9836284, essv9836281, essv9836417, essv9836312, essv9836307, essv9836469, essv9836314, essv9836444, essv9836386, essv9836289, essv9836283, essv9836329, essv9836352, essv9836363, essv9836398, essv9836287, essv9836438, essv9836387, essv9836479, essv9836475, essv9836447, essv9836373, essv9836306, essv9836434, essv9836318, essv9836396, essv9836351, essv9836337, essv9836435, essv9836330, essv9836459, essv9836467, essv9836395, essv9836384, essv9836349, essv9836405, essv9836375, essv9836282, essv9836353, essv9836345, essv9836291, essv9836303, essv9836298 | | Samples | 400920MK, 400075MR, 401706BJ, 400308SP, 400908PJ, 400424LN, 401292ER, 400987FB, 401640WJ, 401052BM, 400114GR, 400377WJ, 400889CM, 400468OB, 400970VE, 400683EC, 400429YF, 401742KB, 401117NA, 400956AM, 401518VK, 401299ST, 400083TG, 401079HJ, 400995MS, 400141CC, 400068PW, 400852WJ, 401927SK, 400655WB, 400595CP, 401918CA, 401721CP, 401949MN, 400641WJ, 401857VG, 400797ST, 400453LN, 400225CJ, 400937OR, 400441GS, 400379BB, 400241CP, 401136LB, 401990PR, 401634CH, 401064FR, 400298ME, 401281BP, 400669LD, 400606HW, 401792KR, 400227MM, 400051MR, 402064DC, 401687LR, 400134WK, 400073HT, 400526DR, 400022WA, 400033KC, 401566DD, 401165SB, 400307HW, 400871CM, 400356MC, 401664SD, 400650RM, 401038LN, 402061PI, 400609FJ, 400836LK, 401994BD, 401532LJ, 401746WW, 401997HB, 400582WS, 400107MJ, 400186WC, 401764JJ, 400793BR, 401726LW, 400007RG, 400416KA, 401655DC, 400236DB, 400040CN, 400110MD, 400070PC, 400977SC, 400838AM, 400240HJ, 400960TN, 401652HL, 400375KA, 400829MR, 400994HJ, 401864CV, 401475MK, 401326LI, 401084BD, 400123WN, 401506LK, 401942MP, 400800MW, 401619BT, 401262RR, 401017SC, 400888MS, 400639RP, 401493HC, 400211BJ, 401875FG, 400371GA, 401039PA, 401711WS, 402074RR, 401702GB, 400319HT, 401940SJ, 400598DA, 400450FG, 40050SB, 401514BA, 401182OC, 400518MS, 400788PV, 400795CL, 400444MM, 401616WP, 400818BL, 401391PJ, 401361GG, 400542EG, 400722OM, 400158FB, 400053LE, 401016IT, 401365DJ, 400881GS, 400845ML, 400712GC, 400156WT, 401844ZD, 401295HB, 400376SJ, 401847RK, 400069CN, 400267GD, 401438HT, 401314MK, 400410CD, 401149VA, 401858TP, 400769SL, 400586RD, 400328LM, 401861GG, 400996MC, 400205SP, 401143LK, 400811SK, 401100SJ, 400719TM, 401372RR, 400271SR, 401543DC, 401681MS, 401358VP, 400525MR, 400106PC, 400315DA, 400833BB, 400261RN, 401153HS, 401932GN, 401453OL, 400079AP, 401882CR, 400300SD, 400012CJ, 401480PG, 400942HR, 401068SD, 400704LC, 401180GR | | 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) | esv3575318
| | Frequency | | Sample Size | 873 | | Observed Gain | 186 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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