Figure 2

At any locus each parental chromosome can have one of three deletion states: wild type (W); large deletion (>1 Mb, L); or small deletion (<1 Mb, S). Therefore, in principle, six combinations can exist in a diploid genome: WW, both chromosomes are wild type; WL, one chromosome has a large hemizygous deletion; WS, one chromosome has a small hemizygous deletion; LL, homozygous deletion in which both chromosomes have large overlapping deletions; LS, homozygous deletion in which one chromosome has a large deletion overlapping a small deletion in the other; SS, homozygous deletion in which both chromosomes have small overlapping deletions.