Human Genome Issue HG-2205

Summary:

A single-haplotype ABC9 fosmid pathway has been sequenced in an effort to represent an insertion-allele of CYP2D6.

Description:

A single-haplotype ABC9 fosmid pathway has been sequenced in an effort to represent an insertion-allele of CYP2D6.

Status:

Resolved (GRC Resolved by Experimental Method)

Type:

Variation

Last updated:

2022-02-18

Affects version:

GRCh38

Fix version:

GRCh38.p1, GRCh39

Resolution:

The ABC9 fosmid pathway has been sequenced and the TPF containing the insertion/duplication allele has been uploaded to the Chr. 22 ALT_REF_LOCI_5 TPF.

Patches and alternate loci

Scaffold type:

NOVEL patch to GRCh38

Comment:

This scaffold provides a representation from one of two haplotypes from the ABC9 fosmid library. This specific haplotype represents a duplication of the CYP2D6 gene. The sequence of this scaffold was generated with support from the Pharmacogenomics Research Network.

Locations and genomic context

• GRCh38.p14 chr22:42,118,062-42,157,187 (View region: Ensembl | NCBI | UCSC)
• GRCh38.p14 chr22|NW_003315971.2:40,407-67,381
• GRCh38.p14 chr22|NW_004504305.1:40,407-74,013
• GRCh38.p14 chr22|NT_187682.1:40,407-79,532
• GRCh38.p14 chr22|NW_009646208.1:3,646-56,476
• GRCh38.p14 chr22|NW_014040931.1:11,670-78,198
• GRCh37.p13 chr22:42,514,066-42,553,193 (View region: Ensembl | NCBI | UCSC)
• GRCh37.p13 chr22|NW_003315971.2:40,407-67,381
• GRCh37.p13 chr22|NW_004504305.1:40,407-74,013