Variant DetailsVariant: esv2760521 | Internal ID | 10376829 | | Landmark | | | Location Information | | | Cytoband | 1q31.3 | | Allele length | | Assembly | Allele length | | hg38 | 188221 | | hg19 | 188221 | | hg18 | 188221 |
| | Variant Type | CNV gain+loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv6e203 | | Supporting Variants | essv7004722, essv7004478, essv7003589, essv7005055, essv7004678, essv7004000, essv7003622, essv7004134, essv7004523, essv7004223, essv7004933, essv7004055, essv7004423, essv7004245, essv7004844, essv7004545, essv7003700, essv7004622, essv7003856, essv7004234, essv7003578, essv7005000, essv7003967, essv7003955, essv7004412, essv7004700, essv7004467, essv7004445, essv7003822, essv7004611, essv7004767, essv7004900, essv7003611, essv7005100, essv7003711, essv7004634, essv7003978, essv7003722, essv7004578, essv7004944, essv7004645, essv7004833, essv7004534, essv7003545, essv7003778, essv7004456, essv7003511, essv7004011, essv7003656, essv7004500, essv7004356, essv7004811, essv7003811, essv7004911, essv7004112, essv7003833, essv7003844, essv7004967, essv7004656, essv7004955, essv7004922, essv7004178, essv7004033, essv7003922, essv7003534, essv7005089, essv7003767, essv7005044, essv7004079, essv7004978, essv7003445, essv7005022, essv7004156, essv7004145, essv7003900, essv7003645, essv7004778, essv7003667, essv7003567, essv7003678, essv7003756, essv7003889, essv7004511, essv7004689, essv7004345, essv7004867, essv7003600, essv7004789, essv7004167, essv7005066, essv7004101, essv7004334, essv7004822, essv7004745, essv7003634, essv7003456, essv7003434, essv7004800, essv7004434, essv7003745, essv7004301, essv7003867, essv7004044, essv7003933, essv7003789, essv7003989, essv7004378, essv7003733, essv7004389, essv7004256, essv7004878, essv7004090, essv7004667, essv7004066, essv7004856, essv7004123, essv7004212, essv7004589, essv7003944, essv7004312, essv7003878, essv7003556, essv7004489, essv7004201, essv7004367, essv7003911, essv7003800, essv7004756, essv7003500, essv7004889, essv7004289, essv7003689, essv7004989, essv7005011, essv7004190, essv7003489, essv7004600, essv7003423, essv7003478, essv7003467, essv7004733, essv7004556, essv7005111, essv7005033, essv7004267, essv7004323, essv7004711, essv7004278, essv7004567, essv7004022, essv7005078, essv7004400, essv7003523 | | Samples | SW_1224, SW_0884, SW_1000, SW_1231, SW_1539, SW_0509, SW_0370, SW_0636, SW_0171, SW_0201, SW_0832, SW_1030, SW_1427, SW_0354, SW_1063, SW_0505, SW_0030, SW_0240, SW_1070, SW_1199, SW_0003, SW_1234, SW_0889, SW_1436, SW_0102, SW_1225, SW_1202, SW_0639, SW_1244, SW_1343, SW_1184, SW_0771, SW_1294, SW_1065, SW_1031, SW_0640, SW_0029, SW_0892, SW_1261, SW_1302, SW_0589, SW_0888, SW_0818, SW_0759, SW_0702, SW_0189, SW_0786, SW_1057, SW_1391, SW_1263, SW_1167, SW_1322, SW_0605, SW_1282, SW_1419, SW_1476, SW_1288, SW_0758, SW_0648, SW_0625, SW_1408, SW_1165, SW_1134, SW_1009, SW_1523, SW_1102, SW_1333, SW_0538, SW_1452, SW_1172, SW_0661, SW_0761, SW_1527, SW_0859, SW_1370, SW_0203, SW_0002, SW_1171, SW_0076, SW_1029, SW_0847, SW_0089, SW_1228, SW_1506, SW_0590, SW_0215, SW_0091, SW_1438, SW_1140, SW_0843, SW_1182, SW_1501, SW_1327, SW_1278, SW_1113, SW_0659, SW_0576, SW_1265, SW_1440, SW_1062, SW_0618, SW_0254, SW_0007, SW_1368, SW_1378, SW_1230, SW_1071, SW_0244, SW_0592, SW_1334, SW_0568, SW_1422, SW_0006, SW_0582, SW_1517, SW_0031, SW_0113, SW_0606, SW_0583, SW_1074, SW_0651, SW_1429, SW_0018, SW_1096, SW_0634, SW_1240, SW_0198, SW_0043, SW_1077, SW_0170, SW_0586, SW_0160, SW_1137, SW_0857, SW_0842, SW_1206, SW_1119, SW_1392, SW_0790, SW_1209, SW_0585, SW_0100, SW_0624, SW_0241, SW_1208, SW_0675, SW_0569, SW_1214 | | Known Genes | CFHR1, CFHR2, CFHR3, CFHR4 | | Method | Merging | | Analysis | Two different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR. | | Platform | Merging | | Comments | | | Reference | Vogler_et_al_2010 | | Pubmed ID | 21179565 | | Accession Number(s) | esv2760521
| | Frequency | | Sample Size | 1109 | | Observed Gain | 5 | | Observed Loss | 143 | | Observed Complex | 0 | | Frequency | n/a |
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