Product Details

Assay Reference Genome
Location

Chr.7:55020484 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 LOC100996654 LOC107986797
nsv607029 Chr7:54579095 - 55086688 on Build GRCh38 Gain EGFR SEC61G LOC100996654 LOC107986797
esv2734425 Chr7:53868335 - 55917254 on Build GRCh38 Deletion EGFR-AS1 LINC01445 VSTM2A-OT1 VSTM2A VOPP1 ZNF713 ELDR LANCL2 PSPHP1 HPVC1 EGFR SEPT14 SEC61G FKBP9P1 LOC100996654 LOC107986797 LOC101060341
nsv528853 Chr7:54997426 - 55020722 on Build GRCh38 Loss EGFR
nsv1030676 Chr7:54583600 - 55151489 on Build GRCh38 Gain EGFR SEC61G LOC100996654 LOC107986797
nsv5752 Chr7:54995331 - 55040249 on Build GRCh38 Deletion EGFR

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