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Table 4 Corrected counts of SVs in the chromosome 1 and the whole genome of a Yoruba individual. 1

From: Identification of genomic indels and structural variations using split reads

SV type

SV size range (bp)

Deletion

1-5

6-10

11-50

51-100

101-200

201-250

251-500

501-1000

> 1000

Total

   Chromosome 1

20,229

3,018

1,619

183

224

156

419

37

101

25,986

   Whole genome 2

252,028

37,600

20,171

2,280

2,791

1,944

5,220

461

1,258

323,753

Insertion

1-5

6-10

11-20

21-30

> 30

Total

    

   Chromosome 1

22,187

3,743

1,074

228

213

27,445

    

   Whole genome

276,422

46,633

13,381

2,841

2,654

341,931

    
  1. Notes:
  2. 1. The true number of large SVs will be underestimated. However, this will have only a marginal effect the magnitude of the estimation of the total number of SVs in a large chromosome or in the whole genome.
  3. 2. The true number of SVs in the whole genome is estimated by extrapolation of the corrected number of SVs in chromosome 1 by the fold increase in size from chromosome 1 to the whole genome.
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BMC Genomics

ISSN: 1471-2164

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