Figure 2

Common types of genomic structural variations (SVs) detected based on the comparison of assembly, read alignments or optical maps, each relying on their unique ‘signatures’. Alignment between assemblies reveals SVs through the disruption of otherwise collinear patterns of sequence matches. Alignment of reads against a reference genome reveals SVs through split reads, discordant read pairs, and aberrant read depth. Alignment between optical maps reveals SVs through the inverted, missing or extra fragment patterns.