A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762433



Internal ID10029783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45496768..46710828hg38UCSC Ensembl
Innerchr17:43574134..44788194hg19UCSC Ensembl
Innerchr17:40929917..42143377hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381214061
hg191214061
hg181213461
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
Known GenesARL17A, ARL17B, CRHR1, CRHR1-IT1, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, LRRC37A4P, MAPT, MAPT-AS1, MAPT-IT1, MGC57346, NSF, NSFP1, SPPL2C, STH
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)esv2762433
Frequency
Sample Size1109
Observed Gain217
Observed Loss161
Observed Complex0
Frequencyn/a


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