Variant DetailsVariant: esv2762433 | Internal ID | 10029783 | | Landmark | | | Location Information | | | Cytoband | 17q21.31 | | Allele length | | Assembly | Allele length | | hg38 | 1214061 | | hg19 | 1214061 | | hg18 | 1213461 |
| | Variant Type | CNV gain+loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv7002505, essv7002466, essv7002305, essv7002254, essv7002336, essv7002218, essv7002170, essv7002285, essv7002458, essv7002399, essv7002472, essv7002373, essv7002221, essv7002429, essv7002219, essv7002435, essv7002154, essv7002341, essv7002333, essv7002490, essv7002563, essv7002259, essv7002403, essv7002233, essv7002540, essv7002330, essv7002512, essv7002520, essv7002337, essv7002530, essv7002192, essv7002394, essv7002432, essv7002419, essv7002351, essv7002387, essv7002533, essv7002347, essv7002462, essv7002449, essv7002322, essv7002476, essv7002482, essv7002232, essv7002160, essv7002311, essv7002370, essv7002317, essv7002176, essv7002553, essv7002480, essv7002299, essv7002391, essv7002209, essv7002152, essv7002239, essv7002405, essv7002346, essv7002177, essv7002364, essv7002204, essv7002454, essv7002436, essv7002294, essv7002237, essv7002306, essv7002144, essv7002474, essv7002353, essv7002518, essv7002271, essv7002276, essv7002243, essv7002216, essv7002532, essv7002388, essv7002509, essv7002483, essv7002354, essv7002431, essv7002272, essv7002172, essv7002453, essv7002416, essv7002565, essv7002461, essv7002397, essv7002258, essv7002199, essv7002469, essv7002437, essv7002319, essv7002464, essv7002321, essv7002325, essv7002195, essv7002547, essv7002231, essv7002550, essv7002206, essv7002477, essv7002248, essv7002215, essv7002361, essv7002548, essv7002442, essv7002279, essv7002501, essv7002561, essv7002338, essv7002291, essv7002342, essv7002307, essv7002303, essv7002173, essv7002560, essv7002379, essv7002252, essv7002159, essv7002375, essv7002274, essv7002558, essv7002185, essv7002371, essv7002470, essv7002460, essv7002485, essv7002521, essv7002277, essv7002213, essv7002171, essv7002236, essv7002340, essv7002517, essv7002217, essv7002179, essv7002515, essv7002359, essv7002427, essv7002455, essv7002193, essv7002448, essv7002528, essv7002240, essv7002404, essv7002451, essv7002182, essv7002417, essv7002324, essv7002414, essv7002186, essv7002273, essv7002420, essv7002484, essv7002493, essv7002220, essv7002499, essv7002495, essv7002315, essv7002471, essv7002381, essv7002282, essv7002331, essv7002286, essv7002155, essv7002350, essv7002396, essv7002527, essv7002398, essv7002290, essv7002293, essv7002564, essv7002366, essv7002235, essv7002413, essv7002524, essv7002292, essv7002543, essv7002492, essv7002288, essv7002479, essv7002352, essv7002507, essv7002401, essv7002390, essv7002196, essv7002513, essv7002349, essv7002339, essv7002210, essv7002542, essv7002475, essv7002284, essv7002552, essv7002426, essv7002255, essv7002328, essv7002526, essv7002151, essv7002383, essv7002168, essv7002162, essv7002229, essv7002161, essv7002158, essv7002457, essv7002447, essv7002208, essv7002149, essv7002295, essv7002463, essv7002262, essv7002264, essv7002494, essv7002519, essv7002205, essv7002275, essv7002269, essv7002525, essv7002430, essv7002355, essv7002344, essv7002268, essv7002369, essv7002557, essv7002309, essv7002304, essv7002266, essv7002175, essv7002191, essv7002157, essv7002316, essv7002562, essv7002459, essv7002180, essv7002360, essv7002169, essv7002544, essv7002546, essv7002374, essv7002402, essv7002348, essv7002537, essv7002424, essv7002554, essv7002440, essv7002153, essv7002280, essv7002244, essv7002503, essv7002362, essv7002225, essv7002468, essv7002372, essv7002422, essv7002326, essv7002433, essv7002183, essv7002242, essv7002439, essv7002318, essv7002555, essv7002410, essv7002270, essv7002487, essv7002261, essv7002510, essv7002188, essv7002393, essv7002214, essv7002385, essv7002444, essv7002202, essv7002438, essv7002222, essv7002200, essv7002491, essv7002257, essv7002207, essv7002425, essv7002465, essv7002365, essv7002163, essv7002203, essv7002551, essv7002197, essv7002298, essv7002541, essv7002332, essv7002408, essv7002251, essv7002164, essv7002382, essv7002409, essv7002406, essv7002302, essv7002250, essv7002418, essv7002230, essv7002166, essv7002496, essv7002194, essv7002198, essv7002386, essv7002297, essv7002327, essv7002283, essv7002535, essv7002224, essv7002329, essv7002335, essv7002184, essv7002384, essv7002343, essv7002150, essv7002320, essv7002246, essv7002516, essv7002531, essv7002247, essv7002506, essv7002363, essv7002263, essv7002281, essv7002497, essv7002376, essv7002421, essv7002407, essv7002147, essv7002238, essv7002380, essv7002377, essv7002368, essv7002481, essv7002148, essv7002358, essv7002253, essv7002211, essv7002415, essv7002508, essv7002314, essv7002260, essv7002504, essv7002308, essv7002498, essv7002502, essv7002226, essv7002187, essv7002443, essv7002249, essv7002313, essv7002357, essv7002446, essv7002441, essv7002514, essv7002559, essv7002529, essv7002450, essv7002228, essv7002536, essv7002488, essv7002392, essv7002181, essv7002452, essv7002486, essv7002395, essv7002473, essv7002428, essv7002296, essv7002165, essv7002287, essv7002549, essv7002265, essv7002227, essv7002538, essv7002310, essv7002539, essv7002241 | | Samples | SW_1214, SW_1451, SW_1441, SW_1290, SW_1125, SW_1000, SW_0841, SW_0831, SW_0057, SW_1192, SW_0832, SW_1086, SW_1210, SW_1030, SW_0145, SW_1439, SW_1170, SW_1402, SW_0635, SW_0016, SW_1017, SW_1315, SW_1535, SW_0623, SW_0072, SW_1042, SW_1268, SW_1244, SW_1246, SW_1365, SW_1343, SW_1407, SW_1314, SW_1092, SW_1348, SW_0570, SW_1065, SW_1031, SW_1020, SW_0660, SW_0691, SW_0029, SW_1293, SW_1129, SW_1013, SW_0581, SW_0116, SW_1512, SW_0815, SW_0589, SW_1351, SW_1106, SW_0759, SW_0604, SW_1361, SW_1254, SW_1121, SW_1221, SW_1258, SW_0869, SW_1413, SW_1055, SW_0047, SW_1456, SW_0227, SW_0295, SW_0048, SW_0605, SW_1085, SW_0805, SW_1477, SW_1153, SW_0375, SW_0817, SW_0071, SW_0214, SW_0077, SW_1355, SW_1165, SW_1134, SW_1127, SW_1569, SW_1009, SW_1446, SW_1504, SW_0803, SW_1107, SW_0757, SW_1212, SW_1144, SW_1040, SW_0819, SW_1131, SW_1270, SW_0859, SW_0856, SW_0554, SW_1411, SW_1120, SW_0628, SW_0631, SW_0203, SW_1543, SW_1417, SW_0076, SW_0641, SW_1029, SW_1414, SW_1179, SW_0847, SW_0089, SW_1103, SW_0368, SW_1274, SW_1093, SW_0861, SW_1335, SW_1295, SW_1047, SW_0843, SW_0165, SW_0619, SW_0120, SW_1482, SW_0871, SW_1205, SW_0254, SW_0253, SW_0007, SW_1101, SW_1112, SW_1230, SW_1510, SW_0004, SW_1326, SW_1478, SW_1067, SW_0592, SW_0323, SW_1334, SW_1068, SW_1517, SW_0678, SW_0270, SW_0651, SW_0143, SW_0147, SW_1301, SW_0018, SW_1156, SW_1520, SW_1045, SW_1551, SW_1463, SW_1416, SW_0198, SW_0001, SW_1571, SW_0822, SW_0579, SW_0170, SW_1215, SW_0009, SW_0160, SW_1424, SW_1279, SW_1273, SW_1229, SW_1405, SW_1175, SW_0690, SW_0148, SW_1090, SW_0624, SW_1208, SW_0675, SW_0169, SW_0836, SW_1303, SW_1281, SW_1250, SW_0884, SW_1372, SW_1539, SW_0285, SW_0171, SW_0286, SW_0201, SW_1427, SW_0142, SW_1375, SW_1459, SW_1298, SW_0199, SW_0059, SW_0873, SW_0184, SW_1111, SW_0575, SW_0146, SW_1141, SW_1080, SW_0889, SW_1436, SW_0063, SW_1051, SW_0578, SW_0846, SW_0175, SW_1457, SW_1324, SW_0202, SW_1387, SW_1437, SW_1184, SW_0771, SW_0191, SW_1367, SW_1354, SW_0086, SW_1174, SW_1097, SW_1078, SW_1049, SW_0045, SW_1058, SW_0892, SW_1379, SW_1447, SW_0020, SW_1066, SW_0609, SW_0816, SW_0032, SW_0888, SW_0200, SW_0189, SW_1245, SW_1455, SW_0828, SW_1109, SW_1211, SW_0760, SW_1057, SW_1263, SW_0226, SW_1253, SW_0060, SW_0185, SW_0552, SW_1309, SW_1469, SW_1393, SW_1476, SW_1204, SW_1044, SW_0062, SW_1235, SW_0172, SW_1288, SW_1243, SW_0648, SW_0625, SW_1190, SW_1189, SW_0216, SW_1028, SW_1523, SW_1358, SW_1102, SW_1284, SW_0789, SW_0538, SW_1452, SW_1084, SW_0661, SW_0761, SW_0665, SW_1527, SW_1508, SW_0058, SW_1465, SW_1389, SW_1122, SW_1171, SW_0044, SW_1228, SW_0271, SW_1483, SW_1438, SW_1140, SW_1327, SW_1471, SW_1340, SW_0576, SW_1467, SW_1440, SW_1342, SW_0653, SW_0118, SW_0339, SW_0379, SW_0101, SW_1332, SW_1306, SW_1346, SW_0061, SW_1071, SW_0244, SW_0269, SW_0190, SW_0568, SW_0103, SW_0006, SW_1475, SW_0524, SW_1116, SW_0606, SW_0673, SW_1139, SW_1248, SW_1429, SW_1480, SW_1313, SW_1163, SW_1096, SW_0632, SW_1240, SW_1039, SW_0791, SW_1180, SW_1217, SW_0717, SW_1038, SW_0144, SW_0338, SW_0352, SW_1046, SW_1484, SW_1073, SW_1267, SW_0585, SW_1511, SW_0241, SW_1213, SW_1450 | | Known Genes | ARL17A, ARL17B, CRHR1, CRHR1-IT1, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, LRRC37A4P, MAPT, MAPT-AS1, MAPT-IT1, MGC57346, NSF, NSFP1, SPPL2C, STH | | 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) | esv2762433
| | Frequency | | Sample Size | 1109 | | Observed Gain | 217 | | Observed Loss | 161 | | Observed Complex | 0 | | Frequency | n/a |
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