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. 2020 Jun;30(6):898–909. doi: 10.1101/gr.260380.119

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© 2020 Chen et al.; Published by Cold Spring Harbor Laboratory Press

This article is distributed exclusively by Cold Spring Harbor Laboratory Press for the first six months after the full-issue publication date (see http://genome.cshlp.org/site/misc/terms.xhtml). After six months, it is available under a Creative Commons License (Attribution-NonCommercial 4.0 International), as described at http://creativecommons.org/licenses/by-nc/4.0/.

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Figure 4. — Detection of structural variations in NA12878. (A) Phased read graph from TELL-seq data showed a 19-kb homozygous deletion (Hom) within a 114-kb heterozygous deletion (Het) on Chromosome 3: 162,512,134–162,626,335. For the same location, a 10x study (Zheng et al. 2016) only reported a 114-kb heterozygous deletion, whereas an stLFR study (Wang et al. 2019) only identified a 19-kb homozygous deletion. However, for 10x data, we confirmed the presence of the 19-kb homozygous deletion when we manually examined the data. GRCh38 (hg38) coordinates were used for visualization data. (B) Heat map of the same region from TELL-seq data clearly showed the presence of both the small homozygous deletion and the large heterozygous deletion.