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Fig. 2 | BMC Genetics

Fig. 2

From: Characterization of the extra copy of TPOX locus with tri-allelic pattern

Fig. 2

The determination of the genomic location of extra copy of TPOX. a The read depth of sample1 (genome 3) compared to that of a normal genome (control) using IGV. Left panel: the region (position chr2: 1,201,500-1,257,500 bp) with a duplication of SNTG2; Right panel: the region (position chr2: 1,377,500-1,509,999 bp) with a duplication of TPO gene. A pseudo deletion happens in SNTG2 in both genomes, which could be attributable to high G-C content therein. b A total of 18 split reads (of half of the read depth) was observed to be concurrently aligned to the fused region. The vertical solid line signposts the right breakpoint junction where the partial duplication of TPO joins in an inverted orientation to the region of SNTG2 as indicated by the arrows. c The breakpoints (red dashed lines) and flanking sequences. PCR products in Additional file 4: Fig. S2 were used for Sanger sequencing, respectively. The upper panel indicates the right breakpoint junction and its flanking regions. The lower panel indicates the left breakpoint junction where a 52 bp sequence was inserted in-between

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