Table 1 Non-exonic CEs identified within the region of the CNV identified in Family 2

From: Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development

Conserved Element

Position (hg19)

Length (bp)

Conservation to human orthologue (%)

Mouse

Chicken

Xenopus

Zebrafish

1

chr4:151,378,979-151,379,314

336

78.1

64.5

2

chr4:151,381,225-151,381,449

225

86.7

3

chr4:151,407,162-151,407,292

131

4

chr4:151,410,152-151,410,335

184

(42.9)

5

chr4:151,410,386-151,410,727

342

(39.8)

6

chr4:151,412,674-151,413,028

355

73.2

73.0

7a

chr4:151,416,673-151,417,093

421

79.1

59.8

35.2

26.5

8b

chr4:151,418,673-151,419,605

933

85.6

67.3

58.2

9

chr4:151,446,445-151,446,701

257

78.6

10c

chr4:151,453,193-151,453,960

768

88.2

78.9

59.9

31.9

11

chr4:151,455,895-151,456,111

217

45.2

66.2

56.4

12

chr4:151,464,211-151,464,504

294

91.2

54.2

13

chr4:151,467,297-151,468,022

726

84.4

71.3

52.4

14

chr4:151,468,356-151,469,080

725

82.4

72.3

43.4

15

chr4:151,483,297-151,483,432

136

77.3

  1. a Element 7 contains the regulatory sequence Ma28. b Element 8 contains the regulatory sequence Mb28. c Element 10 contains the regulatory sequence Mc28. Note: elements 4 and 5 do not map to the vicinity of mab21l2 in Xenopus tropicalis.