Assay Details
Target Gene Details
Entrez Gene ID: | 388795 |
Gene Name: | EF-hand calcium binding domain 8 |
Gene Aliases: |
- |
Location: |
Chr.20:32860995-32961845 on Build GRCh38 |
Assay Gene Location: | Within Intron 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EFCAB8 | XM_011529121.1 | XP_011527423.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1056411 | Chr.20:32469234 - 33355029 on Build GRCh38 | Loss | BPIFA1 BPIFA4P LOC101929698 BPIFB6 LOC105372714 BPIFB1 MAPRE1 SUN5 BPIFA3 NOL4L DNMT3B BPIFA2 LOC149950 BPIFB3 C20orf203 BPIFB4 BPIFB2 COMMD7 EFCAB8 |
esv3567951 | Chr.20:32878728 - 32888024 on Build GRCh38 | Loss | EFCAB8 |
nsv833959 | Chr.20:32829604 - 32982934 on Build GRCh38 | Loss | MAPRE1 EFCAB8 |
nsv585918 | Chr.20:32851403 - 32956284 on Build GRCh38 | Loss | EFCAB8 |
nsv833957 | Chr.20:32755316 - 32907992 on Build GRCh38 | Gain+Loss | DNMT3B MAPRE1 EFCAB8 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |