A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761988



Internal ID10029338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34386576..34570522hg38UCSC Ensembl
Innerchr15:34678777..34862723hg19UCSC Ensembl
Innerchr15:32466069..32650015hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38183947
hg19183947
hg18183947
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv43e203
Supporting Variantsessv7000025, essv6999980, essv6999962, essv7000036, essv7000037, essv6999985, essv7000026, essv6999982, essv7000035, essv7000034, essv7000007, essv6999940, essv6999925, essv6999979, essv7000006, essv6999926, essv6999963, essv6999990, essv7000017, essv6999946, essv7000041, essv6999974, essv7000023, essv6999932, essv7000021, essv6999952, essv7000031, essv7000014, essv6999986, essv7000002, essv6999958, essv7000024, essv7000020, essv6999991, essv6999961, essv7000039, essv7000027, essv7000009, essv6999959, essv6999936, essv6999999, essv6999973, essv7000032, essv6999948, essv7000016, essv6999972, essv7000030, essv6999968, essv6999988, essv6999960, essv6999984, essv6999934, essv6999976, essv7000038, essv6999954, essv6999943, essv7000004, essv6999942, essv7000010, essv6999953, essv6999996, essv6999997, essv6999998, essv7000015, essv7000019, essv6999951, essv7000005, essv6999994, essv6999983, essv6999947, essv6999941, essv7000040, essv7000012, essv6999937, essv6999995, essv6999935, essv6999993, essv6999950, essv6999939, essv7000008, essv6999969, essv6999927, essv7000003, essv7000001, essv6999930, essv6999956, essv6999970, essv6999938, essv6999929, essv6999992, essv7000013, essv6999971, essv6999964, essv6999949, essv6999931, essv6999957, essv6999977, essv7000018, essv7000029, essv6999975, essv6999987, essv7000028, essv6999965, essv6999945, essv6999981, essv6999928
SamplesSW_1266, SW_0884, SW_1539, SW_0057, SW_1377, SW_1170, SW_1063, SW_1443, SW_0505, SW_1064, SW_0016, SW_0146, SW_1118, SW_1143, SW_1304, SW_0046, SW_1325, SW_0191, SW_1232, SW_0086, SW_1097, SW_0570, SW_1236, SW_0691, SW_0647, SW_0802, SW_1447, SW_1066, SW_1376, SW_0609, SW_0891, SW_0311, SW_1455, SW_1305, SW_0584, SW_0047, SW_1476, SW_0805, SW_0230, SW_0369, SW_1468, SW_1243, SW_1134, SW_1452, SW_1084, SW_0313, SW_1043, SW_1053, SW_1357, SW_1233, SW_0787, SW_0058, SW_1120, SW_1465, SW_1389, SW_1148, SW_1417, SW_1162, SW_1506, SW_0590, SW_0091, SW_1295, SW_0843, SW_1278, SW_0187, SW_1060, SW_0775, SW_0118, SW_0379, SW_0101, SW_1332, SW_1326, SW_1478, SW_1334, SW_0855, SW_0103, SW_1475, SW_0673, SW_0270, SW_1429, SW_1480, SW_1142, SW_1157, SW_0872, SW_1096, SW_1240, SW_1045, SW_1463, SW_0820, SW_1180, SW_1008, SW_1201, SW_0603, SW_1119, SW_0352, SW_1392, SW_0790, SW_0690, SW_1381, SW_0241, SW_0675, SW_0569, SW_0836, SW_1303, SW_1281, SW_1203
Known GenesGOLGA8A, GOLGA8B, MIR1233-1, MIR1233-2
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)esv2761988
Frequency
Sample Size1109
Observed Gain1
Observed Loss105
Observed Complex0
Frequencyn/a


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