Hs03352272_cn

• Gene Symbol: CFHR2
• Assay Reference Genome Location: Chr.1:196952961 on build GRCh38
• Cytoband: 1q31.3

Target Gene Details

• Entrez Gene ID: 3080
• Gene Name: complement factor H related 2
• Gene Aliases: CFHL2, FHR2, HFL3
• Location: Chr.1:196943752-196959328 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CFHR2	NM_001312672.1			NP_001299601.1
	NM_005666.3			NP_005657.1
	XM_005245113.3			XP_005245170.1
	XM_011509458.2			XP_011507760.1
	XM_011509459.2			XP_011507761.1
	XM_011509460.2			XP_011507762.1
	XM_017001109.1			XP_016856598.1
	AX772812.1			CAE06255.1
	BC022283.1			AAH22283.1
	BG563114.1
	BG566607.1
	X64877.1			CAA46096.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv517662	Chr.1:196741937 - 196968406 on Build GRCh38	Gain+Loss	CFHR2 CFHR3 CFHR1 CFH CFHR4
dgv58n27	Chr.1:196853900 - 196964115 on Build GRCh38	Gain	CFHR2 CFHR4
dgv12e55	Chr.1:196762018 - 197042447 on Build GRCh38	Gain	CFHR2 CFHR3 CFHR1 CFHR5 CFHR4 F13B
nsv469599	Chr.1:196827346 - 196986100 on Build GRCh38	Loss	CFHR2 CFHR1 CFHR5 CFHR4
nsv428290	Chr.1:196621707 - 196992672 on Build GRCh38	Gain+Loss	CFHR2 CFHR3 CFHR1 CFHR5 CFH CFHR4
nsv471614	Chr.1:196700381 - 196986100 on Build GRCh38	Gain+Loss	CFHR2 CFHR3 CFHR1 CFHR5 CFH CFHR4
dgv6e203	Chr.1:196758720 - 196970589 on Build GRCh38	Gain+Loss	CFHR2 CFHR3 CFHR1 CFHR4
nsv8691	Chr.1:196741634 - 196958768 on Build GRCh38	Gain+Loss	CFHR2 CFHR3 CFHR1 CFH CFHR4
nsv1006432	Chr.1:196847588 - 196970577 on Build GRCh38	Loss	CFHR2 CFHR4
nsv528460	Chr.1:196573437 - 197477572 on Build GRCh38	Gain	MIR4735 ZBTB41 ASPM CFHR2 KCNT2 CFHR3 CRB1 CFHR1 CFHR5 CFH CFHR4 F13B
dgv748n54	Chr.1:196805166 - 196964115 on Build GRCh38	Gain	CFHR2 CFHR1 CFHR4
esv3891037	Chr.1:196841868 - 196964115 on Build GRCh38	Gain	CFHR2 CFHR4

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation