Product Details

Assay Reference Genome
Location

Chr.19:18788890 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 5 - Intron 6
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 COMP DDX49 TM6SF2 LOC102724360 BORCS8 NR2C2AP UPF1 MEF2B ARMC6 SUGP1 SLC25A42 CRTC1 BORCS8-MEF2B HOMER3 CERS1 TMEM161A NCAN KLHL26 SUGP2 COPE HAPLN4 RFXANK GDF1
nsv952422 Chr19:18606691 - 18807891 on Build GRCh38 Deletion COMP CRLF1 TMEM59L KLHL26 CRTC1
nsv833777 Chr19:18765126 - 18920267 on Build GRCh38 Loss COMP DDX49 CERS1 UPF1 COPE GDF1 CRTC1

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