A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv154e203



Internal ID20126379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12019686..12720581hg38UCSC Ensembl
chr8:11877195..12578090hg19UCSC Ensembl
chr8:11914604..12622461hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38700896
hg19700896
hg18707858
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
MethodMerging
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.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)dgv154e203
Frequency
Sample Size1109
Observed Gain184
Observed Loss217
Observed Complex0
Frequencyn/a


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