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System Message

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Gene Symbol: EPS8L1
Assay Reference Genome Location: Chr.19:55084212 on build GRCh38
Cytoband: 19q13.42

Assay ID

Hs04031080_cn

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Catalog #	4400291
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Genomic Map
Assay Details
More Information

Assay Details

Target Gene Details

Entrez Gene ID:	54869
Gene Name:	EPS8 like 1
Gene Aliases:	DRC3, EPS8R1, PP10566
Location:	Chr.19:55075853-55087923 on Build GRCh38
Assay Gene Location:	Overlaps Exon 15 - Intron 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EPS8L1	NM_017729.3			NP_060199.3
	NM_133180.2			NP_573441.2
	XM_005259020.1			XP_005259077.1
	XM_011527050.1			XP_011525352.1
	XM_011527051.2			XP_011525353.1
	XM_011527052.2			XP_011525354.1
	AF282167.1			AAG03038.1
	AF370395.1			AAQ15231.1
	AK000265.1			BAA91041.1
	AK057052.1
	AK075098.1			BAC11399.1
	AK296732.1
	AK301615.1
	AK309908.1	13	1861
	AY074928.1			AAL76117.1
	BC004907.2			AAH04907.2
	BC015763.1			AAH15763.1

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv817874	Chr.19:55067334 - 55103555 on Build GRCh38	Loss	EPS8L1 PPP1R12C RDH13
esv3644829	Chr.19:55030893 - 55138732 on Build GRCh38	Gain	GP6 TNNT1 MIR7975 EPS8L1 PPP1R12C RDH13
esv2667609	Chr.19:54472514 - 55094226 on Build GRCh38	Deletion	KIR3DL1 KIR2DL4 LOC101928804 NCR1 LILRB4 CDC42EP5 RDH13 LILRP2 LILRB1 KIR2DL3 LAIR2 NLRP2 NLRP7 KIR3DL3 KIR3DX1 GP6 FCAR MIR8061 LILRA1 PPP1R12C KIR3DL2 LILRA2 KIR2DL1 KIR2DS4 EPS8L1 LOC102724300
esv3893251	Chr.19:55079303 - 55094733 on Build GRCh38	Loss	EPS8L1 PPP1R12C
esv2758772	Chr.19:55026094 - 55139319 on Build GRCh38	Gain	GP6 TNNT1 MIR7975 EPS8L1 PPP1R12C RDH13
nsv817875	Chr.19:55070143 - 55090747 on Build GRCh38	Loss	EPS8L1
esv2718872	Chr.19:54472594 - 55094247 on Build GRCh38	Deletion	KIR3DL1 KIR2DL4 LOC101928804 NCR1 LILRB4 CDC42EP5 RDH13 LILRP2 LILRB1 KIR2DL3 LAIR2 NLRP2 NLRP7 KIR3DL3 KIR3DX1 GP6 FCAR MIR8061 LILRA1 PPP1R12C KIR3DL2 LILRA2 KIR2DL1 KIR2DS4 EPS8L1 LOC102724300

More Information

Set Membership:

Intragenic

Non-exonic

DGV Variation

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Function(s) Process(es)

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