Target Copy Number Variation Details
- DGV Version
- Release date: 2016-05-15, GRCh GRCh38
Target Variation ID |
Location |
CNV Subtype |
Genes |
esv3631421 |
Chr13:20145912 - 20223722 on Build GRCh38 |
Gain |
GJA3
GJB2
GJB6
|
nsv1046946 |
Chr13:19730301 - 20507454 on Build GRCh38 |
Gain |
ZMYM5
GJA3
MIR4499
GJB2
PSPC1
GJB6
ZMYM2
LINC01072
CRYL1
|
Product Details
- Assay Reference Genome
Location
Chr.13:20188450 on build GRCh38
- Cytoband
- 13q12.11
- Species
- Homo sapiens
- Variation Type
- Copy Number
Additional Information
Target Gene Details
- Entrez Gene ID
- 2706
- Gene Symbol
- GJB2
- Gene Name
- gap junction protein beta 2
- Gene Aliases
- CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK
- Location
- Chr.13:20187463-20192975 on build GRCh38
- Assay Gene Location
- Within Exon 3
Target Copy Number Variation Details
- DGV Version
- Release date: 2016-05-15, GRCh GRCh38
Target Variation |
Location |
CNV Subtype |
Genes |
esv3631421 |
Chr13:20145912 - 20223722 on Build GRCh38 |
Gain |
GJA3
GJB2
GJB6
|
nsv1046946 |
Chr13:19730301 - 20507454 on Build GRCh38 |
Gain |
ZMYM5
GJA3
MIR4499
GJB2
PSPC1
GJB6
ZMYM2
LINC01072
CRYL1
|
View Full Product Details