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. 2021 Apr 7;593(7857):101–107. doi: 10.1038/s41586-021-03420-7

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© The Author(s) 2021

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Extended Data Fig. 4 — Miropeats comparison of the CHM13 and GRCh38 β-defensin loci identifies a 4.11-Mb inverted region (dashed grey line) bracketed by proximal and distal segmental duplications (dup; black and blue arrows) in CHM13. CHM13 also has an additional segmental duplication (blue arrow) relative to the GRCh38. In total, the CHM13 haplotype adds 611.9 kb of new sequence, of which 602.6 kb is located within segmental duplications and 9.3 kb is located at the distal edge of the inverted region. Coloured segments track blocks of homology between CHM13 and GRCh38.