Variant DetailsVariant: esv2762610 | Internal ID | 10375408 | | Landmark | | | Location Information | | | Cytoband | 17p11.2 | | Allele length | | Assembly | Allele length | | hg38 | 221166 | | hg19 | 221165 | | hg18 | 221165 |
| | Variant Type | CNV gain+loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv55e203 | | Supporting Variants | essv7001824, essv7001593, essv7001706, essv7001592, essv7001583, essv7001781, essv7001606, essv7001689, essv7001682, essv7001791, essv7001536, essv7001617, essv7001602, essv7001683, essv7001604, essv7001658, essv7001811, essv7001776, essv7001794, essv7001568, essv7001624, essv7001749, essv7001796, essv7001660, essv7001652, essv7001569, essv7001812, essv7001681, essv7001556, essv7001825, essv7001587, essv7001757, essv7001795, essv7001692, essv7001691, essv7001627, essv7001687, essv7001809, essv7001751, essv7001558, essv7001805, essv7001736, essv7001639, essv7001693, essv7001616, essv7001770, essv7001659, essv7001778, essv7001834, essv7001815, essv7001578, essv7001653, essv7001570, essv7001758, essv7001765, essv7001780, essv7001686, essv7001818, essv7001802, essv7001831, essv7001656, essv7001806, essv7001701, essv7001672, essv7001768, essv7001734, essv7001696, essv7001684, essv7001714, essv7001731, essv7001561, essv7001668, essv7001720, essv7001603, essv7001704, essv7001549, essv7001761, essv7001746, essv7001767, essv7001663, essv7001708, essv7001759, essv7001634, essv7001808, essv7001756, essv7001835, essv7001584, essv7001582, essv7001565, essv7001695, essv7001813, essv7001669, essv7001594, essv7001801, essv7001774, essv7001773, essv7001727, essv7001784, essv7001590, essv7001726, essv7001752, essv7001748, essv7001678, essv7001790, essv7001550, essv7001783, essv7001612, essv7001819, essv7001673, essv7001694, essv7001572, essv7001793, essv7001636, essv7001574, essv7001685, essv7001548, essv7001817, essv7001800, essv7001728, essv7001747, essv7001785, essv7001716, essv7001771, essv7001597, essv7001702, essv7001654, essv7001631, essv7001585, essv7001640, essv7001723, essv7001649, essv7001557, essv7001579, essv7001591, essv7001823, essv7001737, essv7001543, essv7001661, essv7001608, essv7001779, essv7001674, essv7001729, essv7001539, essv7001807, essv7001576, essv7001563, essv7001680, essv7001667, essv7001798, essv7001586, essv7001626, essv7001600, essv7001833, essv7001745, essv7001571, essv7001647, essv7001642, essv7001620, essv7001826, essv7001760, essv7001769, essv7001547, essv7001613, essv7001775, essv7001722, essv7001551, essv7001733, essv7001830, essv7001713, essv7001638, essv7001742, essv7001705, essv7001601, essv7001804, essv7001711, essv7001567, essv7001664, essv7001540, essv7001789, essv7001611, essv7001738, essv7001730, essv7001650, essv7001643, essv7001679, essv7001630, essv7001623, essv7001596, essv7001546, essv7001665, essv7001559, essv7001651, essv7001595, essv7001703, essv7001700, essv7001670, essv7001625, essv7001575, essv7001598, essv7001538, essv7001619, essv7001816, essv7001697, essv7001573, essv7001618, essv7001562, essv7001541, essv7001581, essv7001607, essv7001829, essv7001763, essv7001560, essv7001822, essv7001542, essv7001553, essv7001554, essv7001827, essv7001676, essv7001609, essv7001580, essv7001772, essv7001797, essv7001764, essv7001787, essv7001735, essv7001698, essv7001718, essv7001753, essv7001690, essv7001741, essv7001814, essv7001707, essv7001646, essv7001635, essv7001820, essv7001803, essv7001605, essv7001615, essv7001828, essv7001629, essv7001537, essv7001645, essv7001614, essv7001552, essv7001545, essv7001637, essv7001628, essv7001719, essv7001715, essv7001739, essv7001675, essv7001725, essv7001740, essv7001712, essv7001717, essv7001709, essv7001641, essv7001792, essv7001564, essv7001754, essv7001671, essv7001750, essv7001786, essv7001724, essv7001622, essv7001589, essv7001782, essv7001648, essv7001762, essv7001657, essv7001662 | | Samples | SW_1451, SW_1000, SW_1406, SW_1231, SW_0841, SW_0831, SW_0509, SW_0813, SW_1210, SW_1030, SW_0145, SW_1439, SW_0119, SW_1115, SW_0885, SW_1056, SW_0623, SW_1118, SW_1143, SW_0639, SW_1365, SW_1343, SW_1409, SW_0046, SW_1092, SW_1348, SW_1397, SW_0593, SW_0580, SW_0570, SW_0890, SW_0029, SW_1398, SW_1129, SW_0647, SW_0581, SW_0116, SW_1512, SW_0815, SW_0604, SW_0311, SW_1221, SW_1305, SW_1413, SW_1126, SW_0507, SW_0785, SW_0227, SW_1337, SW_0048, SW_0605, SW_1085, SW_0312, SW_1547, SW_0862, SW_0230, SW_0817, SW_1470, SW_0071, SW_0077, SW_1355, SW_1165, SW_1127, SW_1446, SW_0019, SW_1504, SW_1299, SW_1107, SW_0757, SW_1144, SW_0715, SW_1034, SW_0008, SW_1357, SW_1270, SW_1095, SW_0859, SW_0856, SW_0787, SW_0631, SW_1239, SW_1110, SW_1417, SW_1481, SW_0076, SW_0641, SW_1029, SW_0847, SW_0089, SW_0861, SW_1428, SW_1435, SW_1295, SW_0577, SW_1501, SW_1265, SW_1264, SW_1193, SW_0775, SW_1205, SW_0887, SW_1101, SW_1004, SW_0004, SW_1318, SW_1349, SW_1422, SW_0678, SW_0626, SW_0651, SW_0088, SW_1520, SW_1045, SW_1551, SW_1416, SW_0043, SW_0001, SW_0822, SW_0674, SW_1384, SW_1317, SW_0159, SW_0627, SW_0790, SW_0690, SW_0148, SW_1364, SW_0716, SW_1208, SW_0675, SW_1026, SW_0836, SW_0090, SW_1281, SW_0837, SW_1266, SW_0201, SW_1427, SW_1412, SW_0142, SW_1063, SW_1459, SW_0835, SW_0199, SW_0873, SW_1166, SW_0620, SW_1080, SW_0889, SW_1436, SW_1225, SW_1150, SW_1051, SW_1324, SW_1187, SW_0202, SW_1437, SW_1132, SW_1354, SW_1232, SW_0086, SW_1174, SW_1294, SW_0640, SW_1054, SW_1032, SW_1379, SW_0020, SW_1066, SW_0353, SW_0033, SW_1124, SW_0032, SW_0200, SW_0189, SW_0085, SW_1285, SW_1109, SW_0351, SW_1296, SW_0185, SW_1448, SW_1309, SW_1282, SW_1469, SW_1393, SW_1204, SW_0172, SW_1288, SW_0758, SW_0648, SW_1404, SW_1189, SW_1523, SW_1358, SW_0073, SW_1452, SW_1043, SW_1371, SW_1148, SW_1122, SW_1198, SW_1171, SW_1130, SW_0271, SW_0590, SW_0621, SW_0211, SW_1220, SW_1012, SW_1327, SW_1472, SW_1094, SW_0663, SW_0659, SW_0187, SW_1440, SW_1342, SW_1176, SW_0653, SW_0339, SW_0379, SW_1346, SW_0061, SW_0244, SW_0269, SW_0190, SW_0006, SW_0524, SW_0031, SW_1116, SW_0186, SW_0113, SW_0606, SW_1292, SW_1429, SW_1313, SW_1157, SW_0872, SW_1096, SW_0632, SW_0155, SW_1039, SW_0791, SW_0586, SW_0717, SW_1147, SW_0352, SW_1046, SW_1484, SW_0585, SW_1381, SW_0197, SW_1213, SW_0844, SW_1450 | | Known Genes | CCDC144B, EVPLL, FAM106A, FLJ35934, KRT16P1, LGALS9C, LOC339240, USP32P2 | | 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) | esv2762610
| | Frequency | | Sample Size | 1109 | | Observed Gain | 114 | | Observed Loss | 142 | | Observed Complex | 0 | | Frequency | n/a |
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