A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2760311

Internal ID10027674
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55593885..55736880hg38UCSC Ensembl
Innerchr11:55361361..55504356hg19UCSC Ensembl
Innerchr11:55117937..55260932hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6995981, essv6996028, essv6996030, essv6996061, essv6995976, essv6995937, essv6995986, essv6996005, essv6996025, essv6996062, essv6996010, essv6996032, essv6996014, essv6996063, essv6996070, essv6996012, essv6996051, essv6996069, essv6995998, essv6996001, essv6995945, essv6995969, essv6996024, essv6995948, essv6995949, essv6995979, essv6995983, essv6996049, essv6996074, essv6995964, essv6996021, essv6995997, essv6995957, essv6996002, essv6996009, essv6996016, essv6996040, essv6996038, essv6995940, essv6995951, essv6995939, essv6995988, essv6996075, essv6995946, essv6995985, essv6996068, essv6995938, essv6996004, essv6996064, essv6996041, essv6995973, essv6996017, essv6995959, essv6995953, essv6995972, essv6996027, essv6996047, essv6996042, essv6996036, essv6996073, essv6995974, essv6996008, essv6996034, essv6995941, essv6995996, essv6995970, essv6995991, essv6995971, essv6995961, essv6995960, essv6995958, essv6996057, essv6996067, essv6995968, essv6996023, essv6996026, essv6996056, essv6995950, essv6996020, essv6995942, essv6996071, essv6996039, essv6996060, essv6996065, essv6996072, essv6996035, essv6995999, essv6996019, essv6996059, essv6995943, essv6995984, essv6995990, essv6995947, essv6996050, essv6995980, essv6996048, essv6996043, essv6995982, essv6995992, essv6996046, essv6995993, essv6995994, essv6995962, essv6996058, essv6995952, essv6996013, essv6996045, essv6995977, essv6996076, essv6996018, essv6995954, essv6995987, essv6996053, essv6996037, essv6995975, essv6996003, essv6996029, essv6995965, essv6996015, essv6995963, essv6996006, essv6996054, essv6996031, essv6996052, essv6995995, essv6996007, essv6995956
SamplesSW_1451, SW_1244, SW_1341, SW_0073, SW_0089, SW_1313, SW_0639, SW_1006, SW_0239, SW_1097, SW_1405, SW_1483, SW_1195, SW_0813, SW_1171, SW_0859, SW_1337, SW_1283, SW_1371, SW_0800, SW_0088, SW_1439, SW_1543, SW_0891, SW_1408, SW_0815, SW_0197, SW_1266, SW_1468, SW_0241, SW_0590, SW_1209, SW_1299, SW_1172, SW_1129, SW_1364, SW_1166, SW_1355, SW_0158, SW_1402, SW_0834, SW_0790, SW_0009, SW_0020, SW_1057, SW_1422, SW_1021, SW_1026, SW_0063, SW_1292, SW_1358, SW_0844, SW_1189, SW_1309, SW_1467, SW_1147, SW_1259, SW_1380, SW_1415, SW_1068, SW_1452, SW_0120, SW_1366, SW_1078, SW_1029, SW_1076, SW_0047, SW_1397, SW_0147, SW_0370, SW_0090, SW_0007, SW_0085, SW_0703, SW_1477, SW_1276, SW_1098, SW_0018, SW_1459, SW_1437, SW_0634, SW_0072, SW_1433, SW_1503, SW_1298, SW_0004, SW_0008, SW_1367, SW_1134, SW_1308, SW_0043, SW_1153, SW_1469, SW_0339, SW_0677, SW_1063, SW_0176, SW_1343, SW_1505, SW_1187, SW_1275, SW_1049, SW_1509, SW_0775, SW_1060, SW_0058, SW_0170, SW_1305, SW_0049, SW_0829, SW_0031, SW_0017, SW_1455, SW_0623, SW_0351, SW_1396, SW_0033, SW_0200, SW_1517, SW_1176, SW_1289, SW_1472, SW_1436, SW_0861, SW_1374, SW_1407
Known GenesOR4C11, OR4C6, OR4P4, OR4S2
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)esv2760311
Sample Size1109
Observed Gain1
Observed Loss125
Observed Complex0

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