Variant DetailsVariant: esv2764095 | Internal ID | 10378131 | | Landmark | | | Location Information | | | Cytoband | 8p23.1 | | Allele length | | Assembly | Allele length | | hg38 | 700896 | | hg19 | 700896 | | hg18 | 707858 |
| | Variant Type | CNV gain+loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv154e203 | | Supporting Variants | essv6992438, essv6992666, essv6992582, essv6992561, essv6992439, essv6992486, essv6992642, essv6992617, essv6992430, essv6992571, essv6992708, essv6992637, essv6992480, essv6992506, essv6992614, essv6992606, essv6992681, essv6992579, essv6992584, essv6992526, essv6992632, essv6992647, essv6992563, essv6992491, essv6992607, essv6992530, essv6992671, essv6992492, essv6992472, essv6992572, essv6992659, essv6992620, essv6992538, essv6992459, essv6992635, essv6992613, essv6992562, essv6992537, essv6992458, essv6992493, essv6992573, essv6992437, essv6992535, essv6992464, essv6992425, essv6992605, essv6992602, essv6992435, essv6992644, essv6992609, essv6992693, essv6992660, essv6992583, essv6992640, essv6992488, essv6992432, essv6992442, essv6992479, essv6992518, essv6992679, essv6992505, essv6992422, essv6992661, essv6992570, essv6992509, essv6992577, essv6992517, essv6992625, essv6992447, essv6992546, essv6992521, essv6992555, essv6992552, essv6992543, essv6992499, essv6992496, essv6992564, essv6992528, essv6992420, essv6992615, essv6992449, essv6992576, essv6992662, essv6992427, essv6992690, essv6992574, essv6992684, essv6992457, essv6992697, essv6992508, essv6992558, essv6992650, essv6992575, essv6992444, essv6992580, essv6992665, essv6992431, essv6992507, essv6992428, essv6992702, essv6992569, essv6992531, essv6992476, essv6992646, essv6992421, essv6992674, essv6992627, essv6992487, essv6992418, essv6992587, essv6992651, essv6992424, essv6992653, essv6992529, essv6992502, essv6992688, essv6992628, essv6992618, essv6992461, essv6992477, essv6992608, essv6992504, essv6992636, essv6992482, essv6992554, essv6992453, essv6992560, essv6992549, essv6992527, essv6992465, essv6992686, essv6992595, essv6992598, essv6992469, essv6992550, essv6992547, essv6992692, essv6992475, essv6992542, essv6992548, essv6992473, essv6992699, essv6992601, essv6992494, essv6992619, essv6992655, essv6992658, essv6992683, essv6992501, essv6992652, essv6992557, essv6992626, essv6992536, essv6992706, essv6992599, essv6992519, essv6992533, essv6992540, essv6992440, essv6992450, essv6992490, essv6992631, essv6992670, essv6992663, essv6992649, essv6992455, essv6992610, essv6992669, essv6992685, essv6992612, essv6992514, essv6992498, essv6992559, essv6992704, essv6992677, essv6992448, essv6992654, essv6992516, essv6992695, essv6992621, essv6992592, essv6992510, essv6992648, essv6992638, essv6992581, essv6992443, essv6992416, essv6992616, essv6992551, essv6992639, essv6992532, essv6992603, essv6992641, essv6992687, essv6992481, essv6992463, essv6992485, essv6992709, essv6992495, essv6992426, essv6992673, essv6992419, essv6992682, essv6992701, essv6992520, essv6992417, essv6992483, essv6992593, essv6992672, essv6992694, essv6992629, essv6992512, essv6992703, essv6992471, essv6992451, essv6992429, essv6992454, essv6992484, essv6992596, essv6992594, essv6992503, essv6992585, essv6992513, essv6992436, essv6992544, essv6992696, essv6992707, essv6992460, essv6992604, essv6992497, essv6992668, essv6992446, essv6992691, essv6992588, essv6992643, essv6992433, essv6992676, essv6992462, essv6992568, essv6992565, essv6992597, essv6992515, essv6992466, essv6992541, essv6992664, essv6992525, essv6992441, essv6992698, essv6992468, essv6992452, essv6992470, essv6992591, essv6992586, essv6992623, essv6992539, essv6992680, essv6992566, essv6992524, essv6992675, essv6992657, essv6992705, essv6992624, essv6992590, essv6992630, essv6992474, essv6992553 | | Samples | SW_1441, SW_1224, SW_1000, SW_0831, SW_0057, SW_1366, SW_0145, SW_1439, SW_0119, SW_1064, SW_0003, SW_1188, SW_1168, SW_1143, SW_0639, SW_1246, SW_1460, SW_1343, SW_0149, SW_1304, SW_1287, SW_1105, SW_1314, SW_0341, SW_1325, SW_1033, SW_1223, SW_1397, SW_0593, SW_1065, SW_0890, SW_0029, SW_1398, SW_0647, SW_1376, SW_1252, SW_0589, SW_1106, SW_0604, SW_1221, SW_1570, SW_0869, SW_1305, SW_0584, SW_1456, SW_1269, SW_0048, SW_1419, SW_1547, SW_0805, SW_0862, SW_1470, SW_0077, SW_1569, SW_1009, SW_1446, SW_0296, SW_1172, SW_0008, SW_1131, SW_1270, SW_1095, SW_0856, SW_1120, SW_0631, SW_1088, SW_1356, SW_1029, SW_0701, SW_0861, SW_1428, SW_1341, SW_1335, SW_1435, SW_0215, SW_0577, SW_1113, SW_1265, SW_0120, SW_1060, SW_1249, SW_1227, SW_0007, SW_0258, SW_1112, SW_1230, SW_1004, SW_1067, SW_0592, SW_0855, SW_1422, SW_1068, SW_0626, SW_1074, SW_0143, SW_1083, SW_0340, SW_0018, SW_1156, SW_1505, SW_0634, SW_1045, SW_1416, SW_1571, SW_0243, SW_0009, SW_1087, SW_1308, SW_1279, SW_1273, SW_0159, SW_1405, SW_0627, SW_1026, SW_0090, SW_0837, SW_0884, SW_1242, SW_1372, SW_0286, SW_1108, SW_1427, SW_0184, SW_1081, SW_1070, SW_1166, SW_0146, SW_1080, SW_1436, SW_0063, SW_1425, SW_1051, SW_1396, SW_1324, SW_1387, SW_1437, SW_1132, SW_1354, SW_0086, SW_1097, SW_1138, SW_1049, SW_0045, SW_1032, SW_0020, SW_1066, SW_0891, SW_0015, SW_0888, SW_1431, SW_1455, SW_0085, SW_1285, SW_0351, SW_1211, SW_1391, SW_1253, SW_0060, SW_0185, SW_0552, SW_0376, SW_1282, SW_0860, SW_1393, SW_1476, SW_0005, SW_0062, SW_1466, SW_1235, SW_0172, SW_1468, SW_1288, SW_0625, SW_1404, SW_1408, SW_1189, SW_1028, SW_0268, SW_1523, SW_1289, SW_0789, SW_1043, SW_1371, SW_0058, SW_1148, SW_1171, SW_1162, SW_1079, SW_0044, SW_1228, SW_0271, SW_0590, SW_1140, SW_1327, SW_1340, SW_0576, SW_1089, SW_1342, SW_1176, SW_0118, SW_0379, SW_0101, SW_1378, SW_1332, SW_1306, SW_1275, SW_0829, SW_1346, SW_0061, SW_0269, SW_0568, SW_0006, SW_1116, SW_0186, SW_1480, SW_1313, SW_1142, SW_1163, SW_1096, SW_0632, SW_1077, SW_0155, SW_0791, SW_0049, SW_0717, SW_1509, SW_1386, SW_0842, SW_1147, SW_0352, SW_1046, SW_1484, SW_1381, SW_0197, SW_1511, SW_1213, SW_1450, SW_1503, SW_1430 | | Known Genes | DEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, LOC729732, USP17L2, USP17L7, ZNF705D | | 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) | esv2764095
| | Frequency | | Sample Size | 1109 | | Observed Gain | 113 | | Observed Loss | 137 | | Observed Complex | 0 | | Frequency | n/a |
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