Table 1 Balanced translocations detected in the 1000 Genomes Project

From: Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics

Sample ID

Karyotype

Continental groupa

Populationb

der

Breakpoint A

Breakpoint B

Microhomology

chr

Deletion involving breakpoints

Gene disrupted

Genes in TADc

     

chr

Coordinate

chr

Coordinate

  

Size (bp)

Start

End

  

HG02260

46,XX,t(9;14)(q34.2;q31.1)

AMR

PEL

9

9

137230907

14

79839174

–

9

14

137230908

137230922

RXRA

WDR5,RNU6ATAC

    

14

14

79839173

9

137230923

–

14

0

NA

NA

NRXN3

–

HG03729

46,XY,t(3;17)(q24;p13.3)

SAN

ITU

3

3

143817430

17

2910366

–

3

5,219

143817431

143822650

–

SLC9A9,C3orf58

    

17

3

143822651

17

2914751

TT

17

4,383

2910367

2914750

RAP1GAP2

MIR1253

NA18612

46,XY,t(16;17)(q23.1;q24.2)

ASN

CHB

16

16

75336134

17

64953079

C

16

3

75336135

75336137

CFDP1

CTRB2,CTRB1,BCAR1,TMEM170A,CHST6,CHST5,TMEM231,GABARAPL2,ADAT1

    

17

17

64953078

16

75336138

A

17

0

NA

NA

–

MIR634,CACNG5,CACNG4,CACNG1,HELZ

NA20764

46,XX,t(2;19)(p11.2;p13.3)

EUR

TSI

2

2

86491099

19

424310

–

2

1

86491100

86491100

REEP1

KDM3A,CHMP3,RNF103-CHMP3,RNF103,RMND5A,CD8A,CD8B,ANAPC1P1,MRPL35

    

19

19

424308

2

86491101

TG

19

1

424309

424309

SHC2

PPAP2C,MIER2,THEG,C2CD4C, ODF3L2,MADCAM1

  1. AMR, American; ASN, South Asian; CHB, Han Chinese in Beijing (China); der, derivative chromosome; EUR, European; ITU, Indian Telugu in the UK; PEL, Peruvian in Lima (Peru); SAN, East Asian; TAD, topological associated domain; TSI, Tuscan in Italy.
  2. aContinental group.
  3. bPopulation.
  4. cTAD: domain information from the human IMR90 fibroblast cell line (hg19).
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