Variant DetailsVariant: esv3583196 | Internal ID | 18711394 | | Landmark | | | Location Information | | | Cytoband | 18q23 | | Allele length | | Assembly | Allele length | | hg38 | 5826 | | hg19 | 5826 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1012e212 | | Supporting Variants | essv9816361, essv9816443, essv9816326, essv9816352, essv9816341, essv9816328, essv9816470, essv9816415, essv9816434, essv9816351, essv9816407, essv9816427, essv9816395, essv9816383, essv9816359, essv9816469, essv9816408, essv9816435, essv9816392, essv9816429, essv9816384, essv9816462, essv9816400, essv9816345, essv9816371, essv9816440, essv9816347, essv9816405, essv9816373, essv9816375, essv9816474, essv9816420, essv9816403, essv9816473, essv9816465, essv9816460, essv9816327, essv9816446, essv9816425, essv9816353, essv9816335, essv9816457, essv9816381, essv9816406, essv9816413, essv9816401, essv9816379, essv9816337, essv9816448, essv9816390, essv9816367, essv9816428, essv9816386, essv9816459, essv9816346, essv9816464, essv9816350, essv9816426, essv9816369, essv9816365, essv9816431, essv9816430, essv9816357, essv9816472, essv9816343, essv9816468, essv9816454, essv9816342, essv9816438, essv9816329, essv9816339, essv9816467, essv9816396, essv9816471, essv9816437, essv9816432, essv9816334, essv9816442, essv9816338, essv9816380, essv9816436, essv9816374, essv9816453, essv9816320, essv9816411, essv9816382, essv9816376, essv9816414, essv9816398, essv9816389, essv9816423, essv9816393, essv9816385, essv9816362, essv9816397, essv9816439, essv9816416, essv9816424, essv9816417, essv9816372, essv9816409, essv9816391, essv9816387, essv9816331, essv9816324, essv9816445, essv9816419, essv9816323, essv9816348, essv9816378, essv9816336, essv9816368, essv9816447, essv9816402, essv9816449, essv9816358, essv9816354, essv9816360, essv9816340, essv9816394, essv9816363, essv9816325, essv9816441, essv9816349, essv9816461, essv9816450, essv9816463, essv9816452, essv9816364, essv9816404, essv9816458, essv9816330, essv9816456, essv9816370, essv9816321, essv9816412, essv9816332, essv9816356, essv9816451, essv9816418 | | Samples | 401474CE, 400075MR, 401749DJ, 400424LN, 400364SS, 400145BL, 401465TB, 400987FB, 400926LJ, 400619MP, 400821FE, 400455SJ, 401285HN, 400917CG, 401261HD, 400876OG, 401235IA, 401962BK, 400970VE, 400866RR, 400949AM, 400595CP, 401491BB, 401457WK, 400449PK, 401195PN, 400325BE, 401093VL, 401468RL, 400855BD, 401368WR, 400425SL, 400558BL, 400486LS, 401136LB, 400227MM, 400066MA, 401695BT, 400882DD, 401690HA, 400460DM, 400307HW, 401766MR, 400427SD, 401104DM, 400353ML, 401198TI, 400836LK, 400579HJ, 401801LA, 400113LD, 400507VD, 400186WC, 401764JJ, 400413FJ, 400983PV, 401386WA, 401347DH, 400411TG, 400825TW, 401085LA, 400974PS, 400515ZG, 402063WM, 400870KC, 400110MD, 401913GT, 400064WJ, 401950MD, 401357MH, 400285FA, 401694SG, 401210PB, 400122PL, 401185LE, 400093BL, 400967PK, 401822TL, 400758KP, 400043HC, 401618HR, 401859GS, 401563TK, 401930GD, 401630MK, 400724CD, 4000657TM, 400686BM, 401504RJ, 401606CG, 401952UH, 400705KK, 400888MS, 400639RP, 400014SL, 400520FM, 400354TJ, 400999HR, 400721DJ, 400695PH, 400474GF, 401410BJ, 400329HJ, 401359HF, 400177CG, 400030WD, 401677MM, 400201PK, 400728PB, 401595BL, 400483DP, 401608GE, 400601WC, 400712GC, 400156WT, 401693RC, 401012TP, 401894PD, 400501SJ, 400971MK, 400205SP, 401215MJ, 400792RE, 400849SH, 401829FJ, 401354KM, 400785AK, 401728WK, 400130HA, 401735LE, 400508RD, 400266BA, 400291VJ, 400021ME, 400890IT, 400238BB, 400152MR, 400091BS, 401395OP, 401207DA | | 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) | esv3583196
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 140 | | Observed Complex | 0 | | Frequency | n/a |
|
|
