A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv19e203



Internal ID22760715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18913287..18958446hg38UCSC Ensembl
chr11:18934834..18979993hg19UCSC Ensembl
chr11:18891410..18936569hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3845160
hg1945160
hg1845160
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2760244, esv2760214
SamplesSW_1430, RW_0047, SW_1451, SW_1290, RW_0620, SW_1000, RW_0059, RW_0635, SW_0813, SW_1400, RW_0348, SW_1210, SW_1366, SW_0145, RW_0292, RW_0526, SW_1402, SW_1433, SW_0623, SW_0072, RW_0099, SW_1244, RW_0090, SW_1365, SW_1464, RW_0270, SW_0149, SW_1325, SW_1348, SW_1286, SW_0890, RW_0586, SW_0691, SW_1398, SW_0802, SW_0173, SW_1302, SW_0589, SW_1351, RW_0216, SW_1258, SW_1413, SW_1456, SW_1167, SW_0785, RW_0131, SW_1419, RW_0112, SW_1547, SW_1477, RW_0074, RW_0161, RW_0233, RW_0616, SW_1470, RW_0230, RW_0111, RW_0519, SW_0214, RW_0272, RW_0147, SW_1127, SW_1569, SW_1446, SW_1333, SW_0757, RW_0643, SW_1172, SW_0008, SW_0859, RW_0176, RW_0346, RW_0077, RW_0296, SW_1414, SW_1423, RW_0664, SW_1093, SW_1428, RW_0281, SW_1335, RW_0212, RW_0333, RW_0193, SW_0165, SW_1501, SW_0619, SW_1060, SW_1193, SW_0254, RW_0120, SW_1510, RW_0507, SW_1067, RW_0605, SW_1422, SW_0582, SW_1517, RW_0232, SW_0583, SW_1074, RW_0117, SW_0088, RW_0229, SW_0018, SW_1520, SW_0634, SW_1045, SW_1463, SW_1416, SW_0198, RW_0154, SW_1571, SW_0579, RW_0277, RW_0518, RW_0038, RW_0665, SW_0674, SW_0009, RW_0263, RW_0156, RW_0144, RW_0184, SW_1206, SW_0159, RW_0072, RW_0167, RW_0554, SW_1364, SW_0675, RW_0034, SW_0169, RW_0594, SW_1203, RW_0208, RW_0274, RW_0169, SW_0370, SW_1021, SW_1427, SW_0142, RW_0329, RW_0105, SW_1111, RW_0058, SW_0889, RW_0075, RW_0262, SW_0102, SW_0063, SW_0164, SW_1150, SW_1425, SW_1051, SW_0578, RW_0104, RW_0650, SW_1324, RW_0006, RW_0146, SW_1367, SW_1232, SW_1078, SW_0874, RW_0189, SW_0875, RW_0025, RW_0217, SW_1379, SW_1114, RW_0511, SW_0353, RW_0614, SW_0609, SW_0032, RW_0615, SW_0702, SW_1245, SW_0085, SW_1109, RW_0113, SW_0760, SW_1391, SW_0226, SW_1253, SW_0060, RW_0357, SW_0552, SW_1309, SW_1469, SW_1393, RW_0512, SW_1476, SW_0172, SW_1288, SW_0648, RW_0522, SW_1485, RW_0540, SW_1404, SW_1408, SW_1104, SW_0216, RW_0545, RW_0004, SW_1523, SW_1048, SW_1452, SW_1084, SW_0058, RW_0608, RW_0618, SW_1389, RW_0655, SW_1162, SW_1130, RW_0211, RW_0177, RW_0043, RW_0250, RW_0625, RW_0597, SW_1194, SW_0535, SW_0211, RW_0534, SW_1140, SW_1059, RW_0201, SW_1327, SW_1278, SW_1471, SW_1340, SW_0187, SW_1440, SW_1089, RW_0231, SW_1062, SW_0653, SW_0339, SW_0379, RW_0145, RW_0513, SW_1346, SW_0061, RW_0278, SW_0190, SW_1380, RW_0186, SW_0186, SW_0113, SW_0606, SW_1139, SW_0883, SW_1429, SW_1142, RW_0215, SW_0872, RW_0238, SW_1039, RW_0070, RW_0306, RW_0652, RW_0612, SW_1152, RW_0351, SW_1046, SW_0585, RW_0573, SW_0100, RW_0060, SW_1213
Known GenesMRGPRX1
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)dgv19e203
Frequency
Sample Size1109
Observed Gain206
Observed Loss67
Observed Complex0
Frequencyn/a


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