A curated catalogue of human genomic structural variation

Variant Details

Variant: dgv154e203

Internal ID20126379
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12019686..12720581hg38UCSC Ensembl
chr8:11877195..12578090hg19UCSC Ensembl
chr8:11914604..12622461hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2761239, esv2764095
SamplesRW_0234, SW_1484, RW_0309, SW_1162, SW_1313, RW_0123, RW_0333, RW_0357, SW_0639, SW_1346, SW_0831, RW_0119, RW_0334, SW_0568, SW_1571, SW_0086, RW_0183, RW_0193, SW_0626, SW_1570, RW_0504, SW_1265, SW_1171, SW_1372, SW_1398, SW_1131, RW_0548, RW_0222, SW_1378, RW_0020, SW_1439, RW_0145, SW_0862, SW_0118, SW_0589, RW_0134, RW_0013, SW_0197, SW_1468, SW_0185, SW_0631, SW_1314, RW_0619, RW_0655, SW_0856, SW_1009, RW_0292, RW_0033, RW_0173, RW_0186, SW_0268, SW_1000, SW_0048, RW_0541, RW_0014, SW_0009, SW_0149, SW_1088, RW_0162, SW_1422, SW_1163, RW_0021, SW_1547, SW_0063, SW_1189, RW_0152, SW_1081, SW_1342, RW_0144, RW_0299, RW_0506, SW_0632, SW_0379, RW_0155, SW_1446, SW_0647, SW_1089, SW_0145, SW_1068, RW_0094, RW_0158, SW_0120, SW_1366, SW_1569, SW_1213, RW_0603, RW_0573, SW_0855, SW_1381, SW_1288, RW_0224, SW_0341, SW_0627, SW_1425, SW_1450, SW_1046, RW_0616, RW_0217, SW_1397, SW_1419, SW_0869, SW_1224, RW_0534, RW_0063, RW_0526, SW_0006, SW_0888, RW_0210, SW_0005, SW_0090, SW_0701, RW_0351, RW_0632, SW_0159, RW_0091, RW_0214, RW_0665, SW_1065, RW_0170, RW_0191, SW_1004, SW_1032, RW_0106, RW_0524, RW_0579, SW_1404, SW_1427, SW_1441, SW_0007, SW_0269, SW_1227, SW_0085, SW_1287, SW_0003, SW_1249, SW_1282, SW_1335, SW_0890, SW_1083, RW_0128, RW_0216, RW_0253, RW_0267, SW_0155, RW_0023, SW_1235, RW_0085, RW_0255, SW_1106, SW_1113, SW_1168, SW_1304, RW_0566, RW_0582, SW_0584, SW_1431, RW_0004, SW_0286, SW_1460, RW_0648, SW_0172, SW_0018, SW_1270, SW_0884, SW_1437, RW_0099, SW_1428, SW_1511, SW_0634, SW_1306, RW_0039, SW_1503, SW_0340, RW_0227, SW_1112, RW_0007, SW_0008, RW_0207, SW_1246, SW_1308, SW_0258, SW_0243, SW_1108, RW_0263, SW_0604, RW_0003, RW_0564, SW_0805, SW_1045, RW_0192, SW_1142, RW_0132, SW_0184, SW_1230, SW_1523, RW_0195, SW_1223, SW_1393, SW_0029, SW_0143, RW_0065, RW_0605, SW_1435, SW_0186, SW_1343, RW_0558, SW_1505, RW_0175, SW_1285, RW_0615, SW_1386, SW_1211, SW_0791, SW_1079, SW_1028, SW_1275, SW_1049, SW_1116, RW_0047, RW_0279, SW_1509, SW_1060, SW_1120, SW_1476, SW_0015, SW_1332, SW_0058, SW_1033, SW_1070, SW_1269, RW_0074, SW_0146, RW_0113, RW_0117, RW_0147, SW_1466, RW_0084, RW_0233, RW_0017, SW_1325, RW_0251, RW_0527, SW_1305, RW_0555, SW_1279, SW_0049, SW_1077, RW_0321, SW_1221, SW_0077, RW_0120, SW_0829, RW_0205, RW_0025, SW_1156, SW_1188, RW_0138, RW_0048, RW_0124, RW_0125, RW_0305, RW_0139, RW_0262, SW_0215, SW_1074, SW_1080, SW_1140, SW_1455, RW_0536, SW_1273, RW_0591, SW_1376, RW_0238, SW_0351, SW_1396, SW_1252, SW_1387, SW_0577, SW_1242, RW_0328, RW_0257, SW_0717, SW_1066, SW_1327, RW_0079, SW_0045, SW_0789, RW_0622, SW_1176, SW_1289, SW_1143, SW_0271, SW_0576, RW_0330, SW_1043, RW_0011, SW_1436, RW_0215, RW_0271, SW_0062, SW_1067, SW_0861, SW_1132, RW_0639, SW_0060, SW_1456, SW_1480, SW_0101, RW_0213, RW_0669, SW_0119, RW_0082, RW_0308, RW_0030, SW_1341, RW_0520, SW_0837, SW_1416, RW_0129, SW_1096, SW_1097, SW_1105, SW_1405, RW_0194, RW_0090, RW_0105, RW_0221, SW_1371, RW_0197, RW_0029, SW_1064, RW_0218, SW_1430, SW_0891, SW_1408, SW_0296, SW_1148, SW_0552, SW_0044, SW_0352, SW_0842, SW_1095, RW_0269, SW_0590, SW_0061, SW_1172, RW_0270, RW_0111, SW_1470, RW_0614, SW_1166, RW_0258, SW_1138, RW_0608, SW_0860, RW_0354, RW_0535, RW_0595, SW_0020, SW_0057, RW_0346, SW_1026, SW_0376, SW_1228, SW_1391, SW_0593, SW_1340, SW_1354, SW_1147, SW_1087, RW_0650, RW_0322, SW_1253, SW_1029, SW_0625, SW_1324, RW_0239, RW_0250, SW_1051, SW_0592, SW_1356
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, LOC729732, USP17L2, USP17L7, ZNF705D
AnalysisTwo 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.
Pubmed ID21179565
Accession Number(s)dgv154e203
Sample Size1109
Observed Gain184
Observed Loss217
Observed Complex0

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