A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762388



Internal ID10029738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36060272..36265379hg38UCSC Ensembl
Innerchr17:34387631..34629696hg19UCSC Ensembl
Innerchr17:31411744..31653809hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38205108
hg19242066
hg18242066
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7001875, essv7001995, essv7002028, essv7001965, essv7001933, essv7002021, essv7001877, essv7001931, essv7001897, essv7001899, essv7001970, essv7001974, essv7001908, essv7001904, essv7001951, essv7001914, essv7001973, essv7001993, essv7001960, essv7002032, essv7002042, essv7002039, essv7001887, essv7001900, essv7001896, essv7001994, essv7002017, essv7001874, essv7001983, essv7002058, essv7001906, essv7001991, essv7001981, essv7002054, essv7001963, essv7001975, essv7002048, essv7002010, essv7001924, essv7002036, essv7001907, essv7001953, essv7002031, essv7001895, essv7001982, essv7001902, essv7001969, essv7001950, essv7001905, essv7001986, essv7001978, essv7002053, essv7001954, essv7002016, essv7001947, essv7002059, essv7001980, essv7002030, essv7002049, essv7001893, essv7002022, essv7001903, essv7001913, essv7002043, essv7001959, essv7001930, essv7002024, essv7001996, essv7001958, essv7001966, essv7001932, essv7002029, essv7001926, essv7002040, essv7001952, essv7001972, essv7002051, essv7001891, essv7002057, essv7002011, essv7001892, essv7001938, essv7001909, essv7001997, essv7001918, essv7001881, essv7001880, essv7001999, essv7002014, essv7001882, essv7002047, essv7001946, essv7002008, essv7002055, essv7002041, essv7001944, essv7001917, essv7001961, essv7002009, essv7002052, essv7001988, essv7002007, essv7001936, essv7002020, essv7001911, essv7001910, essv7002038, essv7001876, essv7001935, essv7001948, essv7002027, essv7001941, essv7002035, essv7001922, essv7001886, essv7001971, essv7002004, essv7001925, essv7001894, essv7001916, essv7001885, essv7002046, essv7001878, essv7001921, essv7001943, essv7001985, essv7002026, essv7001919, essv7001898, essv7001915, essv7001962, essv7001937, essv7002044, essv7001927, essv7001884, essv7002050, essv7002019, essv7002025, essv7001976, essv7001889, essv7002018, essv7001957, essv7001998, essv7002000, essv7001949, essv7001977, essv7002015, essv7001940, essv7001929, essv7001928, essv7001987, essv7002033, essv7001992, essv7001888, essv7001883, essv7002005, essv7001939, essv7002037, essv7001989, essv7001955, essv7001942, essv7001920, essv7002002, essv7002013, essv7001984, essv7002003, essv7002006, essv7001964
SamplesSW_0787, SW_1244, SW_1512, SW_0089, SW_0816, SW_0639, SW_1229, SW_1539, SW_1571, SW_1056, SW_0619, SW_0059, SW_1096, SW_1097, SW_1296, SW_0813, SW_1190, SW_1128, SW_0803, SW_0646, SW_1215, SW_0030, SW_1240, SW_1430, SW_0640, SW_0118, SW_0589, SW_1071, SW_1501, SW_0241, SW_1199, SW_1243, SW_0590, SW_0631, SW_1210, SW_0061, SW_1209, SW_1013, SW_1250, SW_0165, SW_1318, SW_0214, SW_0164, SW_1009, SW_1370, SW_0295, SW_1281, SW_1290, SW_1508, SW_1194, SW_0158, SW_1127, SW_1400, SW_1040, SW_0607, SW_0149, SW_1447, SW_1163, SW_1026, SW_1358, SW_1104, SW_1267, SW_0554, SW_0635, SW_1147, SW_0814, SW_1087, SW_0323, SW_1415, SW_0113, SW_0145, SW_1482, SW_0820, SW_1366, SW_0509, SW_0855, SW_1373, SW_1381, SW_0625, SW_1085, SW_1288, SW_0627, SW_0690, SW_1527, SW_1076, SW_1397, SW_0202, SW_0757, SW_0620, SW_0888, SW_0005, SW_0159, SW_1004, SW_0586, SW_1139, SW_0007, SW_1294, SW_1084, SW_1287, SW_0003, SW_1274, SW_0507, SW_1182, SW_1335, SW_1175, SW_1448, SW_0155, SW_1073, SW_1477, SW_0817, SW_1106, SW_1119, SW_1431, SW_0286, SW_0505, SW_0634, SW_1278, SW_0201, SW_1208, SW_1112, SW_1322, SW_0004, SW_1246, SW_1308, SW_1193, SW_0043, SW_0604, SW_0805, SW_1469, SW_0677, SW_1435, SW_1206, SW_0575, SW_1285, SW_1386, SW_0791, SW_1187, SW_1028, SW_1049, SW_0076, SW_1457, SW_0254, SW_1325, SW_0170, SW_0835, SW_1225, SW_1345, SW_1156, SW_1188, SW_0857, SW_0621, SW_1263, SW_0001, SW_1417, SW_0623, SW_1252, SW_1387, SW_0200, SW_0717, SW_1327, SW_0045, SW_1118, SW_1042, SW_1143, SW_1284, SW_0760, SW_1067, SW_0861
Known GenesCCL18, CCL3, CCL3L1, CCL3L3, CCL4, CCL4L1, CCL4L2, TBC1D3B, TBC1D3H
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)esv2762388
Frequency
Sample Size1109
Observed Gain167
Observed Loss1
Observed Complex0
Frequencyn/a


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