A curated catalogue of human genomic structural variation

Variant Details

Variant: dgv43e203

Internal ID20126268
Location Information
TypeCoordinatesAssemblyOther Links
chr15:34386576..34570522hg38UCSC Ensembl
chr15:34678777..34862723hg19UCSC Ensembl
chr15:32466069..32650015hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2760383, esv2761988
SamplesSW_1334, SW_0787, SW_1162, SW_0569, SW_1377, SW_0046, SW_1539, SW_0086, SW_1096, SW_1097, RW_0183, SW_1303, SW_0311, SW_0802, SW_0270, SW_1463, SW_1064, SW_1170, SW_1240, RW_0348, SW_1180, SW_0891, SW_1465, SW_0118, SW_1148, RW_0045, SW_1266, SW_1468, SW_0352, SW_0241, SW_0570, SW_1243, SW_0590, SW_0872, SW_1478, RW_0270, RW_0273, SW_1281, SW_0230, RW_0033, SW_0369, SW_1506, RW_0521, SW_0790, RW_0272, SW_1447, SW_0057, RW_0226, RW_0028, RW_0152, RW_0344, SW_0379, RW_0505, RW_0140, SW_0647, SW_0675, SW_1236, RW_0098, RW_0544, SW_1452, RW_0508, SW_0820, SW_1295, SW_0855, SW_1381, RW_0224, SW_0690, SW_0091, RW_0592, SW_0047, RW_0143, SW_0673, SW_0016, SW_1326, RW_0191, RW_0637, SW_1084, RW_0522, RW_0312, SW_0836, SW_1157, SW_1392, RW_0043, RW_0255, RW_0627, SW_1304, SW_1443, SW_0584, SW_0691, SW_1119, SW_0505, SW_1201, RW_0178, RW_0230, SW_0884, SW_1357, RW_0552, SW_0843, SW_1233, RW_0336, SW_1278, RW_0136, RW_0576, RW_0560, SW_0603, SW_1134, SW_0609, SW_0805, SW_1045, RW_0659, SW_1142, SW_1429, SW_1063, SW_1008, RW_0065, RW_0078, RW_0175, SW_0191, SW_1389, SW_0775, SW_1060, SW_1120, SW_1476, SW_0187, SW_1332, SW_0058, SW_0146, RW_0266, SW_1325, SW_1053, RW_0527, SW_1305, RW_0235, SW_0103, RW_0525, RW_0139, SW_1203, SW_1455, SW_1376, SW_1417, RW_0553, RW_0335, SW_0313, SW_1066, RW_0079, SW_1118, SW_1143, SW_1232, RW_0032, RW_0586, SW_1043, RW_0606, SW_1480, SW_0101, SW_1475
Known GenesGOLGA8A, GOLGA8B, MIR1233-1, MIR1233-2
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)dgv43e203
Sample Size1109
Observed Gain11
Observed Loss144
Observed Complex0

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