Table 3.
Genomic characteristics of deletion breakpoints in the LDLR gene
| Deletion | Deletion size, bp | 5' breakpoint | 3' breakpoint | Repetitive element 5' | Repetitive element 3' |
| Promoter – exon1 | 9325 | 11054981 | 11064306 | Alu Y | Alu Sq |
| Exon5 | 1042 | 11077854 | 11078895 | Alu Sx | Alu Jo |
| Exon7 – 8 | 3012 | 11081462 | 11084473 | Alu Sg/x | Alu Sg/x |
| Exon9 – 14 | 9713 | 11084618 | 11094330 | Alu Sq | Alu Sq |
| Exon 13 – 15 | 6298 | 11090883 | 11097180 | Alu Sg/X | Alu Sg/x |
Breakpoint locations are based on the May 2004 assembly extracted from the Human Genome Browser [13]