A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv121e203



Internal ID22760817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69248737..69453762hg38UCSC Ensembl
chr4:70114455..70319480hg19UCSC Ensembl
chr4:70149044..70354069hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38205026
hg19205026
hg18205026
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2760898, esv2763828
SamplesSW_1451, SW_1224, SW_1000, SW_1406, SW_0841, SW_0831, SW_0509, RW_0300, RW_0071, RW_0356, RW_0636, RW_0644, SW_0145, SW_1439, RW_0305, SW_1115, RW_0039, RW_0520, SW_1315, SW_1199, SW_1056, SW_0072, SW_0003, SW_1259, SW_1118, RW_0359, RW_0595, SW_1268, SW_0639, SW_1343, SW_1464, RW_0270, SW_0762, SW_0341, SW_0046, RW_0312, SW_1033, RW_0322, SW_1397, RW_0180, RW_0658, RW_0319, RW_0255, SW_0116, RW_0179, SW_1302, SW_0099, SW_1351, RW_0216, SW_1126, SW_0047, RW_0246, SW_0785, SW_0605, RW_0131, SW_1419, RW_0528, SW_1153, RW_0230, RW_0519, RW_0023, SW_1165, RW_0500, SW_1569, SW_1446, SW_1299, RW_0143, SW_1212, SW_1172, SW_0313, SW_1040, SW_1034, SW_1357, RW_0185, SW_1270, SW_0859, SW_0856, RW_0279, SW_1120, RW_0346, RW_0214, RW_0077, SW_0203, RW_0611, SW_1414, RW_0091, RW_0587, SW_1103, RW_0653, SW_0861, SW_1335, RW_0252, SW_1295, RW_0212, RW_0210, RW_0092, SW_1113, SW_1193, SW_1249, RW_0523, RW_0195, RW_0120, SW_0253, SW_0007, RW_0166, SW_1112, SW_0814, RW_0543, RW_0235, RW_0562, SW_0592, SW_1334, RW_0529, SW_1422, RW_0048, RW_0232, SW_0583, SW_0270, SW_0651, RW_0284, RW_0229, RW_0119, SW_0018, SW_1520, SW_1551, RW_0154, SW_0579, RW_0031, RW_0079, SW_1384, SW_1137, RW_0263, RW_0156, SW_1279, SW_1262, RW_0223, SW_1405, SW_0627, SW_1175, SW_0148, SW_0716, SW_0624, RW_0336, SW_0569, SW_1026, RW_0594, RW_0162, SW_1281, RW_0208, SW_0255, SW_0285, SW_0171, SW_1377, SW_1222, SW_0286, SW_1427, SW_1412, SW_1459, SW_1443, SW_0873, RW_0239, RW_0323, RW_0196, RW_0345, SW_1436, SW_0164, RW_0634, SW_1396, RW_0187, SW_1457, SW_0801, SW_1437, SW_0115, SW_1184, SW_1100, SW_1367, RW_0560, RW_0559, SW_0086, SW_1078, RW_0025, SW_1058, RW_0629, RW_0181, RW_0217, RW_0116, RW_0096, RW_0011, SW_1447, RW_0511, SW_0353, RW_0614, RW_0334, SW_0891, SW_0015, RW_0137, SW_1431, RW_0174, RW_0626, SW_0121, SW_1263, RW_0218, RW_0358, SW_0185, RW_0357, SW_1309, RW_0512, RW_0267, SW_1204, SW_1044, SW_0369, SW_1468, SW_0830, SW_1243, RW_0522, RW_0541, SW_1485, SW_0625, RW_0540, SW_1404, RW_0659, RW_0539, RW_0103, SW_1358, RW_0061, SW_1284, RW_0637, SW_0789, SW_1395, RW_0197, RW_0576, RW_0505, SW_1233, SW_1371, RW_0311, RW_0567, RW_0002, RW_0593, RW_0666, SW_1079, SW_1075, RW_0288, RW_0515, RW_0222, SW_0271, RW_0625, RW_0257, RW_0597, SW_1194, SW_1483, RW_0129, SW_0211, SW_1220, SW_1140, SW_1059, SW_1012, RW_0260, RW_0328, RW_0056, SW_1327, SW_1278, RW_0276, SW_1471, SW_0187, RW_0578, RW_0249, SW_1440, SW_1062, RW_0308, RW_0564, SW_0379, SW_0101, RW_0341, SW_1306, SW_1275, RW_0331, RW_0669, SW_0833, SW_0006, SW_0031, RW_0013, SW_0673, RW_0275, RW_0132, SW_1313, RW_0220, RW_0662, RW_0215, SW_1163, SW_0872, RW_0574, RW_0128, SW_1077, SW_1180, RW_0170, RW_0613, RW_0652, RW_0033, SW_1509, SW_0842, SW_1152, SW_0338, SW_1209, SW_0585, SW_0100, RW_0139, SW_0844, RW_0285, RW_0532
Known GenesUGT2B28
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)dgv121e203
Frequency
Sample Size1109
Observed Gain6
Observed Loss304
Observed Complex0
Frequencyn/a


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