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Table 4 Copy number variation of EPs

From: Disease specific characteristics of fetal epigenetic markers for non-invasive prenatal testing of trisomy 21

EP

Position of EPs according to assembly

Copy number variation

NCBI36/hg18

GRCh37/hg19

(Database of genomic variant)

EP1

39279856-39280004

40357986-40358134

 

EP2

44161178-44161323

45336750-45336895

Variation_7327 (Loss)

EP3

44161239-44161371

45336811-45336943

Variation_7327 (Loss)

EP4

33320735-33320829

34398865-34398959

 

EP5

42189557-42189683

43316488-43316614

Variation_10602 (Loss)

EP6

42355712-42355815

43482643-43482746

 

EP7

42357215-42357341

43484146-43484272

 

EP8

22403649-22403792

23481778-23481921

Variation_30142 (Loss)

EP9

29136735-29136844

30214864-30214973

 

EP10

32268843-32268943

33346972-33347072

Variation_4114 (Loss/Gain)

EP11

44079235-44079322

45254807-45254894

Variation_5162 (Loss),Variation_7327(Loss), Variation_73647 (Loss), Variation_79379 (Gain) Variation_90815 (Loss), Variation_90816 (Loss)

EP12

37841284-37841411

38919414-38919541

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