Table 1 BAC clones used for breakpoint detection in patients 1 and 2, with their name, sanger name, chromosome, start position and end position according to the NCBI 36 genome assembly.
| Name | Sanger name | Chromosome | Start (base pairs) | End (base pairs) | Patient 1 | Patient 2 |
|---|---|---|---|---|---|---|
| RP11‐103L8 | bA103L8 | 12 | 60326906 | 60482957 | + | + |
| RP11‐96F13 | bA96F13 | 12 | 60399378 | 60556846 | + | + |
| RP11‐402I16 | bA402I16 | 12 | 60470226 | 60639036 | + | + |
| RP11‐196A13 | bA196A13 | 12 | 60516544 | 60670139 | + | + |
| RP11‐15P10 | bA15P10 | 12 | 60592183 | 60768715 | + | + |
| RP11‐542G14 | bA542G14 | 12 | 60637601 | 60804185 | + | + |
| RP11‐155D5 | bA155D5 | 12 | 60695975 | 60861269 | + | + |
| RP11‐120M24 | bA120M24 | 12 | 60829050 | 60980979 | + | + |
| RP11‐97A6 | bA97A6 | 12 | 60917552 | 61052698 | + | + |
| RP11‐169M9 | bA169M9 | 12 | 60920103 | 60948010 | + | + |
| RP11‐467D14 | bA467D14 | 12 | 60966290 | 61162052 | + | − |
| RP11‐142E5 | bA142E5 | 12 | 61085454 | 61271298 | + | − |
| RP11‐151H22 | bA151H22 | 12 | 61221704 | 61367847 | + | − |
| RP11‐570O18 | bA570O18 | 12 | 61280315 | 61431623 | + | − |
| RP11‐131G23 | bA131G23 | 12 | 61343791 | 61525936 | + | − |
| RP11‐538D3 | bA538D3 | 12 | 61529122 | 61684800 | + | − |
| RP11‐24L23 | bA24L23 | 12 | 61634279 | 61805538 | − | − |
| RP11‐263K23 | bA263K23 | 12 | 61706479 | 61872677 | − | − |
| RP11‐61L21 | bA61L21 | 12 | 61883235 | 61951183 | − | − |
| RP11‐105I10 | bA105I10 | 12 | 61907586 | 62065780 | − | − |
| RP11‐52P5 | bA52P5 | 12 | 62021250 | 62183689 | − | − |
| RP11‐267F23 | bA267F23 | 12 | 62033781 | 62189805 | − | − |
| RP11‐134D22 | bA134D22 | 12 | 62196683 | 62347713 | − | − |
| RP11‐272A21 | bA272A21 | 12 | 62218641 | 62371090 | − | − |
| RP11‐415I12 | bA415I12 | 12 | 62349962 | 62538439 | − | − |
| RP11‐367H3 | bA367H3 | 12 | 62470168 | 62644125 | − | − |
| RP11‐274J7 | bA274J7 | 12 | 62508196 | 62670790 | − | − |
| RP11‐456A6 | bA456A6 | 12 | 62577649 | 62745265 | − | − |
| RP11‐196H14 | bA196H14 | 12 | 62738094 | 62928731 | − | − |
| RP11‐290I21 | bA290I21 | 12 | 62854244 | 62854997 | − | − |
| RP11‐444B24 | bA444B24 | 12 | 66740902 | 66931728 | − | − |
| RP11‐71J4 | bA71J4 | 12 | 66926693 | 67077364 | − | + |
| RP11‐81H14 | bA81H14 | 12 | 67059831 | 67208966 | − | + |
| RP11‐185H13 | bA185H13 | 12 | 67160267 | 67368737 | − | + |
| RP11‐254B13 | bA254B13 | 12 | 67191207 | 67347334 | − | + |
| RP11‐531F4 | bA531F4 | 12 | 67255471 | 67462087 | − | + |
| RP11‐450G15 | bA450G15 | 12 | 67366710 | 67543065 | − | + |
| RP11‐410I6 | bA410I6 | 12 | 67507773 | 67668188 | − | + |
| RP11‐249J13 | bA249J13 | 12 | 67574683 | 67726286 | − | + |
| RP11‐43A22 | bA43A22 | 12 | 67681180 | 67830736 | + | + |
| RP11‐324P9 | bA324P9 | 12 | 67816914 | 68000647 | + | + |
| RP11‐73J11 | bA73J11 | 12 | 67862072 | 68020699 | + | + |
| RP11‐426B12 | bA426B12 | 12 | 67926203 | 68135266 | + | + |
| RP11‐159A18 | bA159A18 | 12 | 68032940 | 68179706 | + | + |
| RP11‐23C15 | bA23C15 | 12 | 68135291 | 68315468 | + | + |
| RP11‐15L3 | bA15L3 | 12 | 68217524 | 68403913 | + | + |
| RP11‐161M18 | bA161M18 | 12 | 68369051 | 68562065 | + | + |
| RP11‐21I1 | bA21I1 | 12 | 68442353 | 68627676 | + | + |
| RP11‐21C8 | bA21C8 | 12 | 68508458 | 68666217 | + | + |
| RP11‐384F11 | bA384F11 | 12 | 68610540 | 68808607 | + | + |
| RP11‐60E14 | bA60E14 | 12 | 68706960 | 68858931 | + | + |
+, Presence of two copies; −, the BAC clone is deleted according to the array CGH profile.