. Author manuscript; available in PMC: 2020 Nov 1.

Published in final edited form as: Hum Mutat. 2019 Nov;40(11):e37–e51. doi: 10.1002/humu.23855

Table 1.

CYP2C gene region copy number variants identified by clinical chromosomal microarray (CMA) testing.

Sample	ISCN 2016 Nomenclature	Microarray	Size (kb)	Genes Included	LOVD Variant ID
Discovery Cohort
ISMMS/Sema4_6	arr[GRCh37] 10q23.33(96488443_96540495)x1	Agilent 180K	52.1	CYP2C18 (exons 8–9), CYP2C19 (exons 1–4)	0000484257
ISMMS/Sema4_7	arr[GRCh37] 10q23.33(96488443_96540495)x1	Agilent 180K	52.1	CYP2C18 (exons 8–9), CYP2C19 (exons 1–4)	0000484258
ISMMS/Sema4_5	arr[GRCh37] 10q23.33(96407740_96521658)x1	Agilent 180K	113.9	CYP2C18 (exons 1–8), CYP2C19 (exon 1)	0000484256
ISMMS/Sema4_4^†	arr[GRCh37] 10q23.33(96470997_96602860)x1	Agilent 180K	131.9	CYP2C18 (exons 5–8), CYP2C19 (exons 1–7)	0000484255
ISMMS/Sema4_1	arr[GRCh37] 10q23.33(96447479_96606715)x1	Agilent 105K	159.2	CYP2C18 (exons 2–8), CYP2C19 (exons 1–7)	0000484252
ISMMS/Sema4_2^†	arr[GRCh37] 10q23.33(96361629_96612764)x1	Agilent 44K	251.5	HELLS, CYP2C18, CYP2C19	0000484253
ISMMS/Sema4_3	arr[GRCh37] 10q23.33(96192063_96612764)x1	Agilent 44K	421.1	TBC1D12, HELLS, CYP2C18, CYP2C19	0000484254
ISMMS/Sema4_8^†	arr[GRCh37] 10q23.33q24.1(96383288_97047098)x3	Agilent 180K	663.8	CYP2C18, CYP2C19, CYP2C9, CYP2C8, ACMS6, PDLIM1	0000484259
ISMMS/Sema4_9	arr[GRCh37] 10q23.33q24.1(96161314_97204585)x3	Agilent 180K	1043.3	CYP2C18, CYP2C19, CYP2C9, CYP2C8, ACMS6, PDLIM1, SORBS1 (exons 3–32)	0000484260

Replication Cohort
CMH_3	arr[GRCh37] 10q23.33(96507212_96546422)x1	Agilent 244K	39.2	CYP2C19 (exons 1–5)	0000484261
CMH_1	arr[GRCh37] 10q23.33(96497260_96558710)x1	Affymetrix	61.5	CYP2C19 (exons 1–5)	0000484262
CMH_2	arr[GRCh37] 10q23.33(96497260_96558710)x1	Affymetrix	61.5	CYP2C19 (exons 1–5)	0000484263
CMH_5	arr[GRCh37] 10q23.33(96610653_96741497)x3	Affymetrix	130.8	CYP2C19 (exon 9), CYP2C9 (exons 1–7)	0000484264
CMH_6	arr[GRCh37] 10q23.33(96610653_96741497)x3	Affymetrix	130.8	CYP2C19 (exon 9), CYP2C9 (exons 1–7)	0000484265
CMH_4	arr[GRCh37] 10q23.33(96609567_96741497)x3	Affymetrix	131.9	CYP2C19 (exons 8–9), CYP2C9 (exons 1–7)	0000484266

^†

Ethnicity for individuals ISMMS/Sema4_2, ISMMS/Sema4_4, and ISMMS/Sema4_8 is Hispanic/Latino, White, and Asian, respectively. Ethnicity was not available for all other reported subjects.

Affymetrix: refers to the Cytoscan® microarray; CMH: Children’s Mercy Hospital; ISMMS: Icahn School of Medicine at Mount Sinai; LOVD: Leiden Open Variation Database (https://databases.lovd.nl).