Variant CNV_M1_HG19_2_48812651_48825116

Location: chr2:48812651-48825116 (12Kb)
Site classification: Duplication
Variant DCN frequency: 0.004

Genes Overlapped
STON1 CDS stonin-1
STON1-GTF2A1L CDS STON1-GTF2A1L protein isoform 3


1000 Genomes Phase 1


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Diploid copy number distribution
POP	CN0	CN1	CN2	CN3
ASW	0	0	45	0
CEU	0	0	66	0
CHB	0	0	78	0
CHS	0	0	89	2
CLM	0	0	49	0
FIN	0	0	62	0
GBR	0	0	54	0
IBS	0	0	6	0
JPT	0	0	68	1
LWK	0	0	69	0
MXL	0	0	54	0
PUR	0	0	52	0
TSI	0	0	83	0
YRI	0	0	71	0

AFR	0	0	140	0
AFR+	0	0	185	0
AMR	0	0	155	0
ASN	0	0	235	3
EUR	0	0	271	0

ALL	0	0	846	3
    
Diploid copy number distribution (95% confident)
POP	CN0	CN1	CN2	CN3
ASW	0	0	45	0
CEU	0	0	66	0
CHB	0	0	78	0
CHS	0	0	89	2
CLM	0	0	49	0
FIN	0	0	62	0
GBR	0	0	54	0
IBS	0	0	6	0
JPT	0	0	68	1
LWK	0	0	69	0
MXL	0	0	54	0
PUR	0	0	52	0
TSI	0	0	83	0
YRI	0	0	71	0

AFR	0	0	140	0
AFR+	0	0	185	0
AMR	0	0	155	0
ASN	0	0	235	3
EUR	0	0	271	0

ALL	0	0	846	3
    

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