Variant CNV_M1_HG19_2_48850983_48857831

Location: chr2:48850983-48857831 (6.8Kb)
Site classification: Deletion
Variant DCN frequency: 0.235

Genes Overlapped
GTF2A1L INTRON TFIIA-alpha and beta-like factor
STON1-GTF2A1L INTRON STON1-GTF2A1L protein isoform 3


1000 Genomes Phase 1


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Diploid copy number distribution
POP	CN0	CN1	CN2
ASW	0	12	33
CEU	2	28	36
CHB	0	10	68
CHS	0	13	78
CLM	1	11	37
FIN	4	20	38
GBR	2	16	36
IBS	0	1	5
JPT	0	8	61
LWK	0	5	64
MXL	2	17	35
PUR	0	16	36
TSI	4	23	56
YRI	0	6	65

AFR	0	11	129
AFR+	0	23	162
AMR	3	44	108
ASN	0	31	207
EUR	12	88	171

ALL	15	186	648
    
Diploid copy number distribution (95% confident)
POP	CN0	CN1	CN2
ASW	0	12	33
CEU	2	28	36
CHB	0	10	68
CHS	0	13	78
CLM	1	11	37
FIN	4	18	38
GBR	2	16	36
IBS	0	1	5
JPT	0	8	61
LWK	0	5	64
MXL	2	17	35
PUR	0	16	36
TSI	4	23	56
YRI	0	6	65

AFR	0	11	129
AFR+	0	23	162
AMR	3	44	108
ASN	0	31	207
EUR	12	86	171

ALL	15	184	648
    

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