A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2763780

Internal ID10031130
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248520099..248650779hg38UCSC Ensembl
Innerchr1:248683400..248814080hg19UCSC Ensembl
Innerchr1:246750023..246880703hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7007055, essv7007800, essv7007233, essv7007277, essv7007756, essv7006667, essv7007667, essv7007412, essv7006933, essv7007634, essv7006467, essv7006600, essv7007589, essv7007155, essv7007556, essv7007678, essv7007622, essv7006678, essv7007144, essv7006622, essv7007656, essv7007200, essv7006478, essv7006844, essv7007166, essv7007911, essv7007523, essv7006589, essv7007222, essv7006611, essv7007300, essv7007366, essv7007445, essv7006989, essv7007377, essv7006878, essv7007534, essv7007878, essv7007111, essv7006523, essv7007600, essv7006856, essv7007033, essv7007922, essv7007844, essv7006545, essv7006955, essv7007122, essv7007489, essv7006722, essv7006822, essv7006534, essv7007955, essv7006578, essv7006800, essv7007288, essv7007078, essv7007545, essv7007867, essv7007467, essv7006634, essv7006689, essv7007767, essv7007434, essv7007967, essv7006489, essv7007000, essv7007189, essv7007423, essv7007066, essv7007089, essv7006789, essv7007567, essv7007333, essv7007645, essv7006756, essv7006434, essv7006967, essv7007255, essv7007456, essv7006911, essv7006400, essv7007900, essv7006944, essv7007344, essv7007611, essv7006511, essv7007778, essv7007856, essv7007177, essv7007044, essv7007822, essv7006500, essv7006811, essv7006412, essv7006567, essv7007311, essv7006733, essv7006445, essv7007133, essv7006656, essv7006711, essv7006745, essv7007789, essv7007022, essv7007322, essv7007944, essv7007722, essv7007211, essv7007578, essv7007689, essv7007478, essv7006456, essv7006778, essv7007100, essv7007511, essv7007933, essv7007700, essv7006867, essv7006889, essv7007244, essv7006556, essv7007811, essv7007500, essv7006700, essv7007733, essv7007399, essv7006833, essv7007989, essv7007388, essv7007833, essv7007978, essv7007745, essv7007266, essv7007711, essv7006645, essv7007355, essv7006900, essv7007889, essv7007011, essv7006423, essv7006767, essv7006978, essv7006922
SamplesSW_1334, SW_0119, SW_1272, SW_1313, SW_1409, SW_1471, SW_1192, SW_1097, SW_0626, SW_0813, SW_0311, SW_1337, SW_1190, SW_0800, SW_1463, SW_1064, SW_1430, SW_1481, SW_0801, SW_1439, SW_0891, SW_0862, SW_1408, SW_1465, SW_0815, SW_1196, SW_1071, SW_1314, SW_0173, SW_0165, SW_0214, SW_1129, SW_0651, SW_1009, SW_1102, SW_0295, SW_1290, SW_1194, SW_1400, SW_0607, SW_0889, SW_1440, SW_1021, SW_1202, SW_1228, SW_1189, SW_1391, SW_1375, SW_1342, SW_1467, SW_1034, SW_1438, SW_1446, SW_0759, SW_0255, SW_1101, SW_0113, SW_0715, SW_1027, SW_1236, SW_0820, SW_1366, SW_1078, SW_1295, SW_1197, SW_1029, SW_1381, SW_0625, SW_1288, SW_0585, SW_1324, SW_1076, SW_1031, SW_0757, SW_1326, SW_0005, SW_0785, SW_0524, SW_1004, SW_0538, SW_1427, SW_0085, SW_1287, SW_1274, SW_1249, SW_1182, SW_1335, SW_1448, SW_1395, SW_1477, SW_1235, SW_1113, SW_1168, SW_1304, SW_0172, SW_1511, SW_1126, SW_1233, SW_1503, SW_1246, SW_1193, SW_1245, SW_1153, SW_1045, SW_1142, SW_1429, SW_0674, SW_0677, SW_1393, SW_0659, SW_0176, SW_0186, SW_1206, SW_1039, SW_0786, SW_1285, SW_1079, SW_0887, SW_1049, SW_1116, SW_1389, SW_0775, SW_1033, SW_0578, SW_0170, SW_1279, SW_1379, SW_0171, SW_0077, SW_0857, SW_1074, SW_1080, SW_1264, SW_1396, SW_0577, SW_0200, SW_1327, SW_0071, SW_0789, SW_1176, SW_0762, SW_1551, SW_1349, SW_1475
Known GenesOR2G6, OR2T10, OR2T11, OR2T27, OR2T29, OR2T34, OR2T35
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)esv2763780
Sample Size1109
Observed Gain0
Observed Loss144
Observed Complex0

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