Product Details

Assay Reference Genome
Location

Chr.19:18790107 on build GRCh38
Cytoband
19p13.11
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
1311
Gene Symbol
COMP
Gene Name
cartilage oligomeric matrix protein
Gene Aliases
EDM1, EPD1, MED, PSACH, THBS5, TSP5
Location
Chr.19:18782773-18791305 on build GRCh38
Assay Gene Location
Overlaps Intron 3 - Exon 4
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
COMP NM_000095.2 NP_000086.2
AB086984.1 BAC53888.1
AK074508.1 BAC11031.1
AK223216.1 BAD96936.1
AK290595.1
AK296586.1
AK297798.1
AK297814.1
AU120397.1
BC110847.1 AAI10848.1
BC125092.1
L32137.1 AAA57253.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv3643845 Chr19:18786208 - 18791888 on Build GRCh38 Loss COMP
nsv1151217 Chr19:18627369 - 19284914 on Build GRCh38 Deletion LOC102724360 SUGP1 KLHL26 GDF1 TM6SF2 COMP NR2C2AP DDX49 COPE SLC25A42 ARMC6 HAPLN4 CRTC1 BORCS8-MEF2B BORCS8 NCAN UPF1 TMEM161A HOMER3 RFXANK CERS1 MEF2B SUGP2
nsv952422 Chr19:18606691 - 18807891 on Build GRCh38 Deletion KLHL26 CRTC1 COMP CRLF1 TMEM59L
nsv833777 Chr19:18765126 - 18920267 on Build GRCh38 Loss CRTC1 GDF1 COMP DDX49 UPF1 COPE CERS1

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