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Table 2 Validation of the candidate deletions

From: Identification of medium-sized genomic deletions with low coverage, mate-paired restricted tags

ditagID1

Deletion breakpoints

DelSize (bp)

Notes

Gene involved

DGV overlap2

1_67822_2/1_67825_1

chr1:147489387-147489688

302

Heterozygote

Intergenic

Novel

1_110491_2/1_110494_1

chr1:232385269-232386371

1103

Homozygote

SLC35F3

Variation_109897

1_110644_2/1_110647_1

chr1:232653827-232654136

310

Heterozygote

TARBP1

Novel

5_79470_2/5_79473_1

chr5:172632846-172633171

326

Homozygote

Intergenic

Variation_46815

7_50712_2/7_50719_1

chr7:96313845-96319938

6094

Homozygote

Intergenic

Variation_23855

7_83664_2/7_83673_1

chr7:158193509-158197522

4014

Heterozygote

Intergenic

Variation_43560

8_33206_2/8_33210_1

chr8:64316994-64318575

1582

Homozygote

Intergenic

Novel

9_54312_2/9_54319_1

chr9:129221441-129225898

4458

Homozygote

ZNF79

Variation_106098

11_33186_2/11_33189_1

chr11:67939676-67939985

310

Homozygote

LRP5

Novel

12_1219_2/12_1222_1

chr12:1734274-1734588

315

Heterozygote

ADIPOR2

Variation_11592

12_63591_2/12_63594_1

chr12:123274954-123275072

118

Heterozygote

Intergenic

Variation_11646

14_29251_2/14_29254_1

Not Validated

0

DPV3

-

-

17_141_2/17_145_1

chr17:193768-197057

3290

Homozygote

RPH3AL

Variation_25792

17_6977_2/17_6981_1

chr17:8187338-8188694

1357

Homozygote

ODF4

Variation_43957

17_47495_2/17_47501_1

chr17:71873831-71876905

3075

Heterozygote

Intergenic

Variation_77728

19_22244_2/19_22248_1

chr19:34642031-34648013

5983

Homozygote

Intergenic

Variation_43984

22_10635_2/22_10639_1

chr22:30106417-30110625

4209

Homozygote

Intergenic

Variation_43568

X_7293_2/X_7300_1

chrX:11635278-11641324

6047

Homozygote

Intergenic

Variation_22612

X_21618_2/X_21622_1

chrX:39977151-39979777

2627

Homozygote

Intergenic

Novel

  1. 1 An ID of a ditag from which the local structural information is inferred (Method).
  2. 2 Deletions that overlap with structural changes in the Database of Genomic Variants[5].
  3. 3 Double point variants inactivating both restriction sites.