Product Details

Assay Reference Genome
Location

Chr.7:55030143 on build GRCh38
Cytoband
7p11.2
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
1956
Gene Symbol
EGFR
Gene Name
epidermal growth factor receptor
Gene Aliases
ERBB, ERBB1, HER1, NISBD2, PIG61, mENA
Location
Chr.7:55019032-55207338 on build GRCh38
Assay Gene Location
Within Intron 1
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
EGFR NM_005228.3 NP_005219.2
NM_201282.1 NP_958439.1
NM_201283.1 NP_958440.1
NM_201284.1 NP_958441.1
AB209442.1 BAD92679.1
AF125253.1 AAG43240.1
AK225422.1
AK290352.1
AW163038.1
AY550966.1 AAT52212.1
AY698023.1 AAT97978.1
AY698024.1 AAT97979.1
BC094761.1 AAH94761.1
DQ088980.1
GU255993.1
HQ912715.1
K03193.1 AAA52371.1
U48722.1 AAC50802.1
U95089.1 AAB53063.1
X00588.1 CAA25240.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation
Location CNV
Subtype
Genes
esv2761332 Chr7:54574291 - 55097556 on Build GRCh38 Gain EGFR SEC61G LOC107986797 LOC100996654
nsv607029 Chr7:54579095 - 55086688 on Build GRCh38 Gain EGFR SEC61G LOC107986797 LOC100996654
esv2734425 Chr7:53868335 - 55917254 on Build GRCh38 Deletion HPVC1 ELDR PSPHP1 LOC101060341 SEC61G FKBP9P1 VSTM2A-OT1 VOPP1 EGFR SEPT14 VSTM2A EGFR-AS1 LOC107986797 ZNF713 LOC100996654 LINC01445 LANCL2
nsv1030676 Chr7:54583600 - 55151489 on Build GRCh38 Gain EGFR SEC61G LOC107986797 LOC100996654
nsv5752 Chr7:54995331 - 55040249 on Build GRCh38 Deletion EGFR

View Full Product Details