Product Details

Assay Reference Genome
Location

Chr.8:1780927 on build GRCh38
Cytoband
8p23.3
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
2055
Gene Symbol
CLN8
Gene Name
ceroid-lipofuscinosis, neuronal 8
Gene Aliases
C8orf61, EPMR
Location
Chr.8:1755778-1786570 on build GRCh38
Assay Gene Location
Within Exon 5
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
CLN8 NM_018941.3 3 1526 NP_061764.2
AF123758.1 3 1455 AAF13116.1
AF123759.1 3 1455 AAF13117.1
AF123760.1 3 1455 AAF13118.1
AF123761.1 3 1455 AAF13119.1
BC007725.2 3 1380 AAH07725.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv1024325 Chr8:651043 - 3203837 on Build GRCh38 Gain LOC105377776 DLGAP2 LOC401442 MIR7160 MIR3674 KBTBD11-OT1 ARHGEF10 MIR596 LOC105377781 LOC286083 MYOM2 DLGAP2-AS1 ERICH1-AS1 LOC105377792 CLN8 LOC101928058 LOC101927815 LOC100131395 KBTBD11 ERICH1 LOC101927752 CSMD1 LOC105377777 LOC105377774
esv3891267 Chr8:1755403 - 2343278 on Build GRCh38 Gain CLN8 LOC101928058 LOC100131395 KBTBD11 MIR7160 MIR3674 KBTBD11-OT1 LOC101927752 ARHGEF10 MIR596 LOC105377781 MYOM2
esv3615841 Chr8:1705527 - 1822229 on Build GRCh38 Loss DLGAP2 CLN8 MIR3674 LOC101927752 MIR596
dgv11822n54 Chr8:1748920 - 1829405 on Build GRCh38 Loss CLN8 MIR3674 LOC101927752 ARHGEF10 MIR596
nsv609527 Chr8:1733567 - 1805331 on Build GRCh38 Loss CLN8 MIR3674 LOC101927752
esv3576504 Chr8:951237 - 1906751 on Build GRCh38 Gain LOC105377776 ERICH1-AS1 DLGAP2 CLN8 MIR3674 LOC101927752 ARHGEF10 MIR596 LOC286083 DLGAP2-AS1
nsv609531 Chr8:1768870 - 2267169 on Build GRCh38 Gain CLN8 LOC101928058 LOC100131395 KBTBD11 MIR7160 MIR3674 KBTBD11-OT1 ARHGEF10 MIR596 LOC105377781 MYOM2
nsv509244 Chr8:1756513 - 1850704 on Build GRCh38 Insertion CLN8 MIR3674 LOC101927752 ARHGEF10 MIR596
nsv1025591 Chr8:1755786 - 2335806 on Build GRCh38 Gain CLN8 LOC101928058 LOC100131395 KBTBD11 MIR7160 MIR3674 KBTBD11-OT1 LOC101927752 ARHGEF10 MIR596 LOC105377781 MYOM2
esv3615846 Chr8:1735209 - 1816717 on Build GRCh38 Loss CLN8 MIR3674 LOC101927752

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