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Table 9 Large abnormalities in AGRE samples

From: Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method

ID Chr Loc Type PO SNPs Inf Det mBAF LRR #Reg
AU002503 12 pT UPiD F 3882 603 POD 0.73 0.022 1
AU0025312 17 pT UPiD F 4221 670 POD 0.61 0.001 1
AU005304 5 W NA M(C) 23269 881 POD 0.51 0.017 4
AU016404 6 pT DEL M 8574 1365 POD 0.80 −0.385 1
AU016404 15 qT AMP F 5964 967 POD 0.62 0.249 1
AU031003 5 qT NA F(C) 9497 363 POD 0.51 0.000 4
AU038006 21 W UPiD F 8140 722 POD 0.54 0.002 1
AU060704 7 qT NA M(C) 14016 508 POD 0.51 −0.095 1
AU070003 11 qT UPiD M 14593 2580 MI1 0.82 0.013 3
AU072004 1 q NA F(C) 19976 1299 POD 0.53 −0.007 1
AU075208 6 qT DEL M 12589 1664 POD 0.67 −0.208 1
AU075208 13 qT AMP M 9961 1486 POD 0.59 0.184 1
AU075307 21 W AMP M 8250 882 POD 0.65 0.331 1
AU077705 12 qT NA M(C) 5016 854 POD 0.65 0.084 1
AU078803 9 W AMP M 26873 3833 POD 0.58 0.161 2
AU0871303 5 W NA F(C) 33022 1966 POD 0.53 0.067 2
AU0871303 11 qT NA F(C) 5178 263 POD 0.52 0.048 1
AU0871303 12 W AMP M 26968 1870 POD 0.53 0.150 2
AU0903303 6 W NA F(C) 35910 1969 POD 0.52 −0.063 2
AU0924301 12 W NA M(C) 27011 2153 POD 0.53 0.073 2
AU0962301 12 W NA F(C) 17431 629 POD 0.50 0.000 4
AU0983302 3 pT UPiD M 10954 1316 POD 0.58 0.033 1
AU1060301 3 qT UPiD M 1890 326 POD 0.66 0.015 1
AU1157303 9 q UPiD M 15535 2086 POD 0.57 0.026 1
AU1227303 21 W AMP M 8250 553 POD 0.65 0.291 1
AU1227304 12 W NA M(C) 26967 2321 POD 0.53 0.057 3
AU1243301 9 qT AMP F 5779 419 POD 0.56 0.139 1
AU1277303 12 W NA M(C) 16009 649 POD 0.50 −0.036 2
AU1285302 13 qI NA M(C) 7510 982 POD 0.54 0.114 1
AU1321301 6 W NA F(C) 35956 2604 POD 0.52 −0.069 2
AU1346302 19 pT NA M(C) 3301 291 POD 0.53 0.012 1
AU1388302 10 qT AMP M 17918 2363 POD 0.59 0.176 1
AU1388302 11 qI AMP F 3517 498 POD 0.59 0.093 1
AU1388302 11 qT DEL F 10173 1649 POD 0.69 −0.331 1
AU1462301 9 W NA F(C) 25921 1688 POD 0.52 0.054 2
AU1462303 6 pT UPiD M 9294 1489 POD 0.69 0.014 1
AU1462303 9 q NA F(C) 12655 451 POD 0.51 −0.030 3
AU1497301 14 qI UPiD M 5337   MI1 1 −0.017 1
AU1497301 14 qI UPhD M 9148   MI1 0.52 −0.002 1
AU1497301 14 qT UPiD M 3774   MI1 1 0.029 1
AU1529301 19 pT UPiD F 2599 374 POD 0.56 −0.005 1
AU1544303 12 W NA M(C) 26590 1885 POD 0.52 0.053 2
AU1585303 9 q NA F(C) 14175 655 POD 0.51 −0.002 3
AU1590302 6 pT NA F(C) 7117 399 POD 0.53 0.010 1
AU1594303 6 W DEL M 38044 5388 POD 0.59 −0.132 2
AU1594303 9 W AMP M 26276 2372 POD 0.54 0.089 3
AU1601302 12 W NA M(C) 26900 1563 POD 0.52 0.056 2
AU1650306 11 qT NA F(C) 4955 621 POD 0.55 −0.101 1
AU1650307 9 W NA M(C) 26736 2000 POD 0.53 0.070 2
AU1695303 12 W AMP F 27318 3128 POD 0.55 0.102 2
AU1791303 9 W NA F(C) 26393 1296 POD 0.52 0.056 3
AU1822302 16 p+qC UPhD M 14865 1187 POD 0.50 −0.014 2
AU1822302 16 qT UPiD M 1866 344 POD 0.91 −0.025 1
  1. Abbreviations as described in Table 8. Note – a large abnormality detected in sample AU1497301 was manually annotated as adjacent regions of UPD.