A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2762433

Internal ID10029783
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45496768..46710828hg38UCSC Ensembl
Innerchr17:43574134..44788194hg19UCSC Ensembl
Innerchr17:40929917..42143377hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7002361, essv7002381, essv7002549, essv7002546, essv7002250, essv7002173, essv7002565, essv7002495, essv7002372, essv7002435, essv7002396, essv7002470, essv7002233, essv7002159, essv7002421, essv7002429, essv7002393, essv7002280, essv7002370, essv7002277, essv7002499, essv7002216, essv7002175, essv7002392, essv7002493, essv7002449, essv7002461, essv7002553, essv7002307, essv7002311, essv7002385, essv7002374, essv7002249, essv7002332, essv7002211, essv7002302, essv7002465, essv7002153, essv7002460, essv7002560, essv7002527, essv7002253, essv7002464, essv7002513, essv7002260, essv7002447, essv7002258, essv7002287, essv7002348, essv7002185, essv7002337, essv7002491, essv7002198, essv7002299, essv7002263, essv7002327, essv7002416, essv7002344, essv7002501, essv7002161, essv7002462, essv7002214, essv7002510, essv7002243, essv7002309, essv7002281, essv7002432, essv7002181, essv7002328, essv7002349, essv7002425, essv7002262, essv7002264, essv7002451, essv7002225, essv7002326, essv7002458, essv7002479, essv7002236, essv7002530, essv7002544, essv7002364, essv7002505, essv7002402, essv7002286, essv7002254, essv7002284, essv7002363, essv7002540, essv7002330, essv7002415, essv7002265, essv7002357, essv7002485, essv7002331, essv7002350, essv7002241, essv7002329, essv7002352, essv7002454, essv7002507, essv7002257, essv7002315, essv7002144, essv7002202, essv7002538, essv7002268, essv7002428, essv7002439, essv7002273, essv7002543, essv7002252, essv7002380, essv7002399, essv7002195, essv7002261, essv7002562, essv7002506, essv7002224, essv7002228, essv7002371, essv7002306, essv7002401, essv7002366, essv7002395, essv7002291, essv7002436, essv7002316, essv7002219, essv7002285, essv7002313, essv7002532, essv7002210, essv7002417, essv7002310, essv7002444, essv7002335, essv7002469, essv7002559, essv7002221, essv7002483, essv7002231, essv7002398, essv7002516, essv7002266, essv7002247, essv7002528, essv7002296, essv7002404, essv7002497, essv7002539, essv7002275, essv7002550, essv7002426, essv7002197, essv7002279, essv7002440, essv7002504, essv7002474, essv7002525, essv7002200, essv7002232, essv7002298, essv7002324, essv7002235, essv7002196, essv7002308, essv7002473, essv7002360, essv7002384, essv7002387, essv7002150, essv7002377, essv7002481, essv7002163, essv7002414, essv7002158, essv7002155, essv7002177, essv7002205, essv7002303, essv7002319, essv7002180, essv7002339, essv7002346, essv7002397, essv7002475, essv7002186, essv7002488, essv7002215, essv7002320, essv7002446, essv7002206, essv7002276, essv7002355, essv7002508, essv7002179, essv7002471, essv7002294, essv7002322, essv7002486, essv7002376, essv7002358, essv7002238, essv7002496, essv7002242, essv7002347, essv7002269, essv7002441, essv7002170, essv7002524, essv7002531, essv7002207, essv7002535, essv7002246, essv7002359, essv7002563, essv7002480, essv7002305, essv7002199, essv7002194, essv7002466, essv7002188, essv7002191, essv7002542, essv7002430, essv7002369, essv7002518, essv7002394, essv7002482, essv7002151, essv7002227, essv7002551, essv7002452, essv7002176, essv7002169, essv7002172, essv7002240, essv7002274, essv7002336, essv7002536, essv7002419, essv7002187, essv7002463, essv7002498, essv7002368, essv7002472, essv7002152, essv7002342, essv7002318, essv7002515, essv7002537, essv7002149, essv7002477, essv7002213, essv7002351, essv7002448, essv7002375, essv7002554, essv7002362, essv7002365, essv7002512, essv7002229, essv7002259, essv7002492, essv7002519, essv7002255, essv7002533, essv7002154, essv7002490, essv7002379, essv7002403, essv7002409, essv7002453, essv7002193, essv7002204, essv7002209, essv7002217, essv7002218, essv7002290, essv7002183, essv7002427, essv7002333, essv7002407, essv7002147, essv7002230, essv7002148, essv7002373, essv7002317, essv7002383, essv7002494, essv7002248, essv7002438, essv7002564, essv7002270, essv7002208, essv7002354, essv7002343, essv7002420, essv7002410, essv7002548, essv7002192, essv7002459, essv7002442, essv7002555, essv7002292, essv7002325, essv7002382, essv7002424, essv7002272, essv7002390, essv7002541, essv7002455, essv7002557, essv7002487, essv7002547, essv7002408, essv7002244, essv7002391, essv7002293, essv7002220, essv7002468, essv7002168, essv7002237, essv7002157, essv7002388, essv7002521, essv7002164, essv7002226, essv7002405, essv7002502, essv7002529, essv7002340, essv7002184, essv7002418, essv7002341, essv7002509, essv7002514, essv7002321, essv7002558, essv7002484, essv7002517, essv7002433, essv7002165, essv7002338, essv7002295, essv7002450, essv7002520, essv7002282, essv7002203, essv7002271, essv7002437, essv7002503, essv7002476, essv7002166, essv7002239, essv7002288, essv7002251, essv7002422, essv7002457, essv7002561, essv7002314, essv7002297, essv7002406, essv7002431, essv7002526, essv7002413, essv7002171, essv7002386, essv7002353, essv7002552, essv7002443, essv7002182, essv7002222, essv7002304, essv7002283, essv7002162, essv7002160
SamplesSW_1484, SW_1512, SW_1107, SW_1313, SW_1055, SW_1346, SW_0831, SW_1539, SW_0568, SW_1571, SW_0086, SW_0619, SW_1122, SW_1192, SW_0771, SW_1303, SW_1483, SW_1301, SW_1171, SW_0859, SW_1372, SW_1190, SW_0628, SW_1131, SW_0189, SW_0244, SW_1248, SW_1439, SW_1543, SW_1465, SW_0118, SW_0589, SW_1071, SW_0144, SW_0185, SW_1243, SW_0631, SW_1314, SW_1141, SW_1250, SW_0892, SW_1109, SW_1478, SW_0651, SW_0856, SW_1009, SW_0295, SW_0641, SW_1508, SW_1355, SW_1030, SW_1000, SW_0048, SW_0009, SW_0889, SW_1057, SW_1163, SW_0368, SW_0063, SW_1358, SW_1189, SW_1342, SW_0632, SW_1268, SW_0379, SW_1446, SW_1217, SW_0323, SW_0675, SW_0759, SW_1101, SW_0145, SW_1068, SW_1482, SW_1452, SW_1413, SW_0120, SW_1569, SW_1078, SW_1213, SW_1253, SW_1295, SW_1029, SW_0625, SW_1085, SW_1288, SW_0585, SW_1324, SW_0216, SW_0828, SW_1103, SW_1348, SW_0690, SW_1044, SW_1527, SW_1450, SW_1046, SW_0047, SW_1031, SW_0202, SW_0285, SW_0673, SW_0757, SW_0846, SW_0016, SW_0869, SW_0147, SW_1051, SW_0203, SW_1510, SW_0116, SW_1326, SW_0006, SW_0592, SW_0888, SW_1414, SW_0841, SW_1204, SW_0524, SW_1065, SW_1424, SW_0538, SW_1139, SW_1214, SW_1315, SW_1427, SW_1441, SW_0007, SW_0269, SW_0579, SW_1084, SW_1274, SW_0873, SW_1335, SW_1175, SW_0836, SW_1086, SW_0199, SW_1073, SW_1477, SW_0817, SW_1235, SW_1106, SW_0691, SW_1365, SW_0286, SW_0172, SW_0018, SW_1270, SW_1459, SW_0884, SW_1437, SW_0819, SW_1511, SW_0822, SW_0226, SW_1254, SW_1306, SW_1535, SW_0072, SW_0843, SW_1179, SW_1017, SW_0201, SW_1208, SW_0605, SW_1112, SW_1298, SW_0004, SW_1367, SW_1134, SW_1246, SW_0609, SW_1047, SW_0169, SW_0375, SW_1245, SW_0604, SW_1153, SW_0032, SW_0678, SW_0805, SW_1045, SW_1090, SW_1429, SW_0184, SW_1230, SW_1523, SW_1469, SW_0339, SW_1393, SW_0029, SW_0143, SW_0253, SW_0653, SW_1144, SW_0665, SW_1184, SW_0575, SW_1343, SW_1039, SW_0191, SW_1093, SW_1211, SW_0791, SW_1028, SW_1111, SW_1049, SW_1116, SW_0076, SW_1293, SW_1389, SW_1120, SW_1476, SW_1332, SW_0058, SW_0146, SW_1457, SW_0254, SW_1351, SW_0578, SW_0170, SW_1092, SW_0847, SW_0660, SW_1279, SW_1379, SW_0171, SW_1221, SW_0077, SW_0103, SW_0190, SW_1156, SW_0227, SW_0661, SW_0175, SW_1080, SW_1140, SW_1455, SW_1263, SW_1273, SW_0338, SW_0001, SW_0871, SW_1038, SW_1417, SW_0198, SW_0623, SW_1387, SW_0200, SW_0717, SW_1066, SW_1327, SW_0045, SW_0071, SW_0789, SW_1125, SW_1517, SW_1042, SW_1411, SW_0832, SW_1284, SW_1504, SW_0271, SW_0576, SW_1551, SW_0760, SW_1436, SW_0648, SW_1174, SW_0062, SW_1067, SW_0861, SW_0060, SW_1456, SW_1480, SW_0101, SW_1407, SW_1475, SW_1334, SW_1451, SW_1165, SW_1244, SW_0089, SW_0816, SW_1229, SW_1416, SW_1471, SW_0059, SW_1096, SW_1097, SW_1405, SW_0160, SW_0803, SW_1215, SW_0270, SW_1463, SW_1170, SW_1240, SW_1180, SW_0815, SW_1212, SW_0552, SW_0581, SW_0044, SW_0352, SW_0241, SW_0570, SW_1210, SW_1361, SW_0061, SW_0148, SW_0606, SW_1520, SW_1013, SW_1121, SW_0165, SW_1020, SW_0214, SW_1129, SW_1102, SW_1281, SW_1258, SW_1290, SW_0761, SW_1205, SW_1402, SW_1127, SW_1040, SW_1058, SW_1440, SW_1447, SW_0020, SW_0057, SW_0142, SW_1228, SW_0624, SW_1309, SW_1340, SW_1375, SW_1267, SW_1467, SW_1354, SW_0554, SW_0635, SW_1438
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)esv2762433
Sample Size1109
Observed Gain217
Observed Loss161
Observed Complex0

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