Variant CNV_M2_HG19_8_6839961_6859070_8_6859071_6878169

Location: chr8:6839961-6859070 (19Kb), chr8:6859071-6878169 (19Kb), distance: 0b
Site classification: Multi-allelic
Variant DCN frequency: 0.701

Genes Overlapped
DEFA1B CDS neutrophil defensin 1 precursor
DEFA1B EXON neutrophil defensin 1 precursor
DEFA3 GENE neutrophil defensin 3 precursor


1000 Genomes Phase 1


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Diploid copy number distribution
POP	CN0	CN1	CN2	CN3	CN4	CN5	CN6	CN7	CN8	CN9	CN10	CN11	CN12	CN13	CN14
ASW	0	0	1	8	12	7	13	2	2	0	0	0	0	0	0
CEU	0	0	2	8	9	13	23	7	3	0	1	0	0	0	0
CHB	0	0	3	9	24	17	12	7	4	0	0	2	0	0	0
CHS	0	0	4	5	34	18	12	2	7	5	2	2	0	0	0
CLM	0	0	0	11	16	6	8	6	2	0	0	0	0	0	0
FIN	0	0	4	5	13	11	17	4	8	0	0	0	0	0	0
GBR	0	0	1	15	7	7	10	12	1	0	0	0	0	1	0
IBS	0	0	0	0	1	1	3	1	0	0	0	0	0	0	0
JPT	0	0	3	7	14	5	9	5	8	8	1	6	1	2	0
LWK	0	0	2	15	16	15	7	6	4	1	1	1	0	1	0
MXL	0	0	0	13	14	12	13	2	0	0	0	0	0	0	0
PUR	0	0	2	10	7	13	13	1	4	2	0	0	0	0	0
TSI	0	0	2	14	17	18	19	8	2	1	1	1	0	0	0
YRI	0	0	2	8	26	20	6	3	2	1	0	0	1	1	1

AFR	0	0	4	23	42	35	13	9	6	2	1	1	1	2	1
AFR+	0	0	5	31	54	42	26	11	8	2	1	1	1	2	1
AMR	0	0	2	34	37	31	34	9	6	2	0	0	0	0	0
ASN	0	0	10	21	72	40	33	14	19	13	3	10	1	2	0
EUR	0	0	9	42	47	50	72	32	14	1	2	1	0	1	0

ALL	0	0	26	128	210	163	165	66	47	18	6	12	2	5	1
    
Diploid copy number distribution (95% confident)
POP	CN0	CN1	CN2	CN3	CN4	CN5	CN6	CN7	CN8	CN9	CN10	CN11	CN12	CN13	CN14
ASW	0	0	0	6	8	5	6	1	0	0	0	0	0	0	0
CEU	0	0	1	7	7	9	18	7	2	0	0	0	0	0	0
CHB	0	0	3	9	21	11	11	2	1	0	0	1	0	0	0
CHS	0	0	4	3	21	5	6	1	3	0	0	0	0	0	0
CLM	0	0	0	9	11	3	2	1	1	0	0	0	0	0	0
FIN	0	0	3	2	9	5	6	0	2	0	0	0	0	0	0
GBR	0	0	1	11	4	6	5	2	1	0	0	0	0	0	0
IBS	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0
JPT	0	0	3	7	12	4	8	5	3	3	1	5	0	2	0
LWK	0	0	0	13	11	6	3	0	0	0	0	0	0	0	0
MXL	0	0	0	10	13	6	5	1	0	0	0	0	0	0	0
PUR	0	0	2	7	6	6	7	0	1	0	0	0	0	0	0
TSI	0	0	2	12	13	17	14	5	1	1	0	1	0	0	0
YRI	0	0	2	8	25	19	6	2	0	0	0	0	0	0	1

AFR	0	0	2	21	36	25	9	2	0	0	0	0	0	0	1
AFR+	0	0	2	27	44	30	15	3	0	0	0	0	0	0	1
AMR	0	0	2	26	30	15	14	2	2	0	0	0	0	0	0
ASN	0	0	10	19	54	20	25	8	7	3	1	6	0	2	0
EUR	0	0	7	32	34	37	43	14	6	1	0	1	0	0	0

ALL	0	0	21	104	162	102	97	27	15	4	1	7	0	2	1
    

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