A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763780



Internal ID10031130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248520099..248650779hg38UCSC Ensembl
Innerchr1:248683400..248814080hg19UCSC Ensembl
Innerchr1:246750023..246880703hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38130681
hg19130681
hg18130681
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
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)esv2763780
Frequency
Sample Size1109
Observed Gain0
Observed Loss144
Observed Complex0
Frequencyn/a


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