Variant CNV_M2_HG19_2_130879201_130998685_2_132190778_132308920

Location: chr2:130879201-130998685 (119Kb), chr2:132190778-132308920 (118Kb), distance: 1.2Mb
Site classification: Multi-allelic
Variant DCN frequency: 0.007

Genes Overlapped
CCDC74A GENE coiled-coil domain-containing protein 74A isoform 4
CCDC74B GENE coiled-coil domain-containing protein 74B isoform 2
MZT2A GENE mitotic-spindle organizing protein 2A
MZT2B GENE mitotic-spindle organizing protein 2
POTEF EXON POTE ankyrin domain family member F
SMPD4 GENE sphingomyelin phosphodiesterase 4
TUBA3D GENE tubulin alpha-3C/D chain
TUBA3E GENE tubulin alpha-3E chain


1000 Genomes Phase 1


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Diploid copy number distribution
POP	CN0	CN1	CN2	CN3	CN4	CN5	CN6
ASW	0	0	0	0	45	0	0
CEU	0	0	0	0	66	0	0
CHB	0	0	0	0	77	1	0
CHS	0	0	0	0	88	2	1
CLM	0	0	0	1	48	0	0
FIN	0	0	0	0	62	0	0
GBR	0	0	0	1	53	0	0
IBS	0	0	0	0	6	0	0
JPT	0	0	0	0	68	0	1
LWK	0	0	0	0	68	1	0
MXL	0	0	0	0	54	0	0
PUR	0	0	0	0	51	1	0
TSI	0	0	0	0	83	0	0
YRI	0	0	0	0	71	0	0

AFR	0	0	0	0	139	1	0
AFR+	0	0	0	0	184	1	0
AMR	0	0	0	1	153	1	0
ASN	0	0	0	0	233	3	2
EUR	0	0	0	1	270	0	0

ALL	0	0	0	2	840	5	2
    
Diploid copy number distribution (95% confident)
POP	CN0	CN1	CN2	CN3	CN4	CN5	CN6
ASW	0	0	0	0	45	0	0
CEU	0	0	0	0	66	0	0
CHB	0	0	0	0	77	1	0
CHS	0	0	0	0	87	1	1
CLM	0	0	0	1	48	0	0
FIN	0	0	0	0	62	0	0
GBR	0	0	0	1	52	0	0
IBS	0	0	0	0	6	0	0
JPT	0	0	0	0	67	0	0
LWK	0	0	0	0	68	0	0
MXL	0	0	0	0	54	0	0
PUR	0	0	0	0	51	1	0
TSI	0	0	0	0	83	0	0
YRI	0	0	0	0	71	0	0

AFR	0	0	0	0	139	0	0
AFR+	0	0	0	0	184	0	0
AMR	0	0	0	1	153	1	0
ASN	0	0	0	0	231	2	1
EUR	0	0	0	1	269	0	0

ALL	0	0	0	2	837	3	1
    

Imputation spider plots:  ASW  CEU  CHB  CHS  CLM  FIN  GBR  IBS  JPT  LWK  MXL  PUR  TSI  YRI