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Table 2 List of polymorphic BAC clones used for FISH/qPCR analysis in controls.

From: Large-scale copy number variants (CNVs): Distribution in normal subjects and FISH/real-time qPCR analysis

Cytoband

Clone name

Previously reported

Size (kb)

Gene(s) contained

Overlap with segmental duplications

ARRAY

FISH

qPCR

2q37.3

RP5-1011O17

Y

21.8

No

yes

deletion

complete loss of one copy (Fig1)

C

13q21.1

RP11-100C24

Y

129.3

No

No

gain

2 copies (Fig3)

NC

      

loss

2 copies (Fig2)

NC

14q12

RP11-125A5

Y

186.5

No

No

gain/loss

2 copies (not shown)

NT

2q14.3

RP11-270M20

N

140.4

No

No

gain

2 copies (not shown)

NT

8p22

RP11-89M16

Y

176

MTMR7; SLC7A2; PDGFRL

No

deletion

partial deletion of one copy (Fig 1)

C

12p13.33

RP11-598F7

N

0.5

SLC6A12

No

gain

multiple sites on non-homologous chromosomes (Fig 4)

NT

  1. C = confirmed
  2. NC = not confirmed
  3. NT = not tested