Assay Details
Target Gene Details
Entrez Gene ID: | 130162 |
Gene Name: | clathrin heavy chain linker domain containing 1 |
Gene Aliases: |
C2orf63 |
Location: |
Chr.2:55172547-55232563 on Build GRCh38 |
Assay Gene Location: | Within Intron 12 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2720078 | Chr.2:53962225 - 55281329 on Build GRCh38 | Deletion | EML6 SPTBN1 CLHC1 C2orf73 RTN4 RPL23AP32 TSPYL6 PSME4 MTIF2 ACYP2 RPS27A |
nsv1010438 | Chr.2:55146426 - 55223008 on Build GRCh38 | Loss | CLHC1 |
nsv522016 | Chr.2:55177658 - 55333162 on Build GRCh38 | Gain | PRORSD1P CLHC1 CCDC88A MTIF2 RPS27A |
More Information
Additional Information:
For this assay, SNP(s) [rs80287741] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |