A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv131e203



Internal ID22760827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:653466..874903hg38UCSC Ensembl
chr5:653581..875018hg19UCSC Ensembl
chr5:706581..928018hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38221438
hg19221438
hg18221438
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2760933, esv2763887
SamplesSW_1441, SW_0831, RW_0356, SW_0832, RW_0203, SW_0354, RW_0292, SW_0119, SW_1064, SW_1017, RW_0520, SW_1199, SW_1056, SW_0623, SW_0072, RW_0256, RW_0093, SW_1168, RW_0359, SW_0607, SW_1042, SW_1244, RW_0090, SW_1365, SW_1464, RW_0322, SW_1348, RW_0134, SW_1223, SW_1330, SW_0890, RW_0586, SW_0029, SW_1129, SW_0647, SW_1023, SW_1013, SW_0581, RW_0255, SW_1302, SW_0815, SW_1258, SW_0869, SW_1126, SW_1055, RW_0100, SW_0047, SW_0507, RW_0003, SW_0227, SW_0605, RW_0136, SW_1085, SW_0805, SW_0862, SW_1477, RW_0074, SW_1153, SW_1470, RW_0230, RW_0506, RW_0631, RW_0519, SW_0214, SW_0077, RW_0147, SW_1165, SW_1006, SW_0296, RW_0602, SW_0859, RW_0531, SW_1323, RW_0279, RW_0596, RW_0176, RW_0601, SW_1088, RW_0611, SW_1543, SW_1356, SW_1414, RW_0664, RW_0653, RW_0020, RW_0252, SW_0843, SW_0165, RW_0289, RW_0053, RW_0316, SW_1249, SW_0254, RW_0527, RW_0195, RW_0120, SW_0253, SW_0007, SW_0887, SW_1101, RW_0166, SW_1112, SW_1510, RW_0663, RW_0562, SW_1345, SW_1349, RW_0529, SW_1422, RW_0232, SW_1074, SW_0651, RW_0589, SW_1083, SW_0147, RW_0119, SW_1520, SW_0198, RW_0149, SW_0579, RW_0050, SW_0160, SW_1137, RW_0028, RW_0144, SW_1273, RW_0184, SW_1229, SW_0790, SW_0690, RW_0266, SW_0716, SW_0624, RW_0248, SW_1303, SW_1372, SW_0201, RW_0087, SW_1108, SW_1021, SW_1063, SW_1443, SW_0199, RW_0553, RW_0329, SW_1111, SW_1080, SW_0889, RW_0582, RW_0268, RW_0178, SW_1051, SW_1396, RW_0650, SW_1132, SW_0115, SW_0191, RW_0330, SW_1049, SW_0045, RW_0629, RW_0012, SW_1447, SW_0834, SW_1066, RW_0254, SW_1124, RW_0549, SW_0800, RW_0510, SW_0888, RW_0049, SW_0200, SW_0189, RW_0174, SW_1455, SW_0085, RW_0113, SW_1082, SW_1282, SW_1469, RW_0512, RW_0267, SW_1468, SW_1243, SW_0648, RW_0558, RW_0577, SW_1485, SW_1408, RW_0651, RW_0103, SW_1028, RW_0004, RW_0637, RW_0600, RW_0005, RW_0197, RW_0094, SW_1053, SW_1371, RW_0311, RW_0655, SW_1148, SW_1353, SW_1198, RW_0593, SW_1171, SW_1130, SW_0044, RW_0250, RW_0288, RW_0597, SW_0211, RW_0633, SW_1438, RW_0201, SW_1094, SW_0663, SW_0576, RW_0667, RW_0308, RW_0078, RW_0032, SW_0379, RW_0073, SW_1378, SW_0269, SW_0190, SW_0568, RW_0186, SW_0113, RW_0013, SW_0673, RW_0275, RW_0132, SW_1480, SW_1313, SW_1142, RW_0273, SW_0872, RW_0238, SW_0791, SW_0049, RW_0170, SW_1008, SW_1201, SW_1038, RW_0209, RW_0057, RW_0508, SW_1267, RW_0207, SW_0100, RW_0041, RW_0139, SW_0844, RW_0213, SW_1430
Known GenesBRD9, CEP72, TPPP, ZDHHC11
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)dgv131e203
Frequency
Sample Size1109
Observed Gain183
Observed Loss85
Observed Complex0
Frequencyn/a


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