Variant CNV_M1_HG19_12_22248257_22251726
Location: chr12:22248257-22251726 (3.5Kb)
Site classification: Deletion
Variant DCN frequency: 0.036
Genes Overlapped
Site classification: Deletion
Variant DCN frequency: 0.036
Genes Overlapped
| ST8SIA1 | INTRON | alpha-N-acetylneuraminide alpha-2,8-sialyltransferase |
1000 Genomes Phase 1
Diploid copy number distribution
POP CN0 CN1 CN2
ASW 0 8 37
CEU 0 0 66
CHB 0 0 78
CHS 0 0 91
CLM 0 2 47
FIN 0 0 62
GBR 0 0 54
IBS 0 0 6
JPT 0 0 69
LWK 0 13 56
MXL 0 0 54
PUR 0 1 51
TSI 0 0 83
YRI 0 14 57
AFR 0 27 113
AFR+ 0 35 150
AMR 0 3 152
ASN 0 0 238
EUR 0 0 271
ALL 0 38 811
Diploid copy number distribution (95% confident)
POP CN0 CN1 CN2
ASW 0 8 35
CEU 0 0 65
CHB 0 0 78
CHS 0 0 91
CLM 0 1 45
FIN 0 0 58
GBR 0 0 53
IBS 0 0 6
JPT 0 0 68
LWK 0 6 55
MXL 0 0 54
PUR 0 1 50
TSI 0 0 83
YRI 0 14 57
AFR 0 20 112
AFR+ 0 28 147
AMR 0 2 149
ASN 0 0 237
EUR 0 0 265
ALL 0 30 798
Imputation spider plots: ASW CEU CHB CHS CLM FIN GBR IBS JPT LWK MXL PUR TSI YRI