Product Details

Assay Reference Genome
Location

Chr.19:18788513 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 7 - Exon 8
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
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 DDX49 SUGP2 HOMER3 RFXANK BORCS8-MEF2B KLHL26 NR2C2AP GDF1 HAPLN4 SUGP1 ARMC6 BORCS8 CERS1 SLC25A42 COMP LOC102724360 MEF2B UPF1 NCAN TM6SF2 CRTC1 TMEM161A COPE
nsv952422 Chr19:18606691 - 18807891 on Build GRCh38 Deletion COMP CRLF1 KLHL26 TMEM59L CRTC1
nsv833777 Chr19:18765126 - 18920267 on Build GRCh38 Loss DDX49 CERS1 COMP UPF1 CRTC1 GDF1 COPE

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