Product Details

Assay Reference Genome
Location

Chr.7:55020740 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 SEC61G LOC107986797 EGFR LOC100996654
nsv607029 Chr7:54579095 - 55086688 on Build GRCh38 Gain SEC61G LOC107986797 EGFR LOC100996654
esv2734425 Chr7:53868335 - 55917254 on Build GRCh38 Deletion FKBP9P1 VSTM2A-OT1 HPVC1 PSPHP1 SEPT14 ZNF713 EGFR LOC101060341 ELDR VSTM2A LINC01445 SEC61G EGFR-AS1 LOC107986797 LOC100996654 LANCL2 VOPP1
nsv528853 Chr7:54997426 - 55020722 on Build GRCh38 Loss EGFR
nsv1030676 Chr7:54583600 - 55151489 on Build GRCh38 Gain SEC61G LOC107986797 EGFR LOC100996654
nsv5752 Chr7:54995331 - 55040249 on Build GRCh38 Deletion EGFR

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