Journal: Human mutation

Article Title: Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles

doi: 10.1002/humu.23855

Figure Lengend Snippet: Illustration of the chromosome 10q23.33 region with the identified CYP2C copy number variants (CNVs) noted in relation to the location of known human genes and transcripts from the UCSC Genes track, segmental duplications, microarray (purple), MLPA (light green), and ddPCR (dark green) probe locations, structural variants from the Database of Genomic Variants (DGV), ClinGen, and DECIPHER. Blue bars represent copy number gains (duplications), red bars represent copy number losses (deletions). The minimum and maximum CNV sizes in the clinical CMA cohorts are denoted by thick and thin horizontal bars, respectively.

Article Snippet: CYP2C gene region copy number variants identified by clinical chromosomal microarray (CMA) testing. table ft1 table-wrap mode="anchored" t5 Table 2. caption a7 SAMPLE ID CYP2C19 CYP2C9 Exon 2 Exon 6 Exon 9 Exon 1 Exon 7 Exon 8A Exon 8B Exon 9 ISMMS/Sema4_4 0.499 0.458 0.517 0.928 0.962 0.953 0.989 0.961 ISMMS/Sema4_5 * 0.977 1.030 1.004 1.016 0.995 0.982 0.949 1.075 ISMMS/Sema4_6 0.508 0.903 0.968 0.953 0.959 1.005 1.041 1.014 ISMMS/Sema4_7 0.481 0.854 0.992 1.004 1.010 1.027 1.064 0.984 ISMMS/Sema4_9 1.440 1.665 1.297 1.209 1.561 1.368 1.487 1.577 Open in a separate window * A 113.9 kb deletion was detected by CMA in this sample that included exons 1–8 of CYP2C18 and only exon 1 of CYP2C19 .

Techniques: Microarray

Journal: Human mutation

Article Title: Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles

doi: 10.1002/humu.23855

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

Article Snippet: CYP2C gene region copy number variants identified by clinical chromosomal microarray (CMA) testing. table ft1 table-wrap mode="anchored" t5 Table 2. caption a7 SAMPLE ID CYP2C19 CYP2C9 Exon 2 Exon 6 Exon 9 Exon 1 Exon 7 Exon 8A Exon 8B Exon 9 ISMMS/Sema4_4 0.499 0.458 0.517 0.928 0.962 0.953 0.989 0.961 ISMMS/Sema4_5 * 0.977 1.030 1.004 1.016 0.995 0.982 0.949 1.075 ISMMS/Sema4_6 0.508 0.903 0.968 0.953 0.959 1.005 1.041 1.014 ISMMS/Sema4_7 0.481 0.854 0.992 1.004 1.010 1.027 1.064 0.984 ISMMS/Sema4_9 1.440 1.665 1.297 1.209 1.561 1.368 1.487 1.577 Open in a separate window * A 113.9 kb deletion was detected by CMA in this sample that included exons 1–8 of CYP2C18 and only exon 1 of CYP2C19 .

Techniques: Microarray, Variant Assay

Journal: Human mutation

Article Title: Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles

doi: 10.1002/humu.23855

Figure Lengend Snippet:

Article Snippet: CYP2C gene region copy number variants identified by clinical chromosomal microarray (CMA) testing. table ft1 table-wrap mode="anchored" t5 Table 2. caption a7 SAMPLE ID CYP2C19 CYP2C9 Exon 2 Exon 6 Exon 9 Exon 1 Exon 7 Exon 8A Exon 8B Exon 9 ISMMS/Sema4_4 0.499 0.458 0.517 0.928 0.962 0.953 0.989 0.961 ISMMS/Sema4_5 * 0.977 1.030 1.004 1.016 0.995 0.982 0.949 1.075 ISMMS/Sema4_6 0.508 0.903 0.968 0.953 0.959 1.005 1.041 1.014 ISMMS/Sema4_7 0.481 0.854 0.992 1.004 1.010 1.027 1.064 0.984 ISMMS/Sema4_9 1.440 1.665 1.297 1.209 1.561 1.368 1.487 1.577 Open in a separate window * A 113.9 kb deletion was detected by CMA in this sample that included exons 1–8 of CYP2C18 and only exon 1 of CYP2C19 .

Techniques: Variant Assay, Microarray