Variant CNV_M1_HG19_12_2239465_2258005
Location: chr12:2239465-2258005 (18Kb)
Site classification: Deletion
Variant DCN frequency: 0.051
Genes Overlapped
Site classification: Deletion
Variant DCN frequency: 0.051
Genes Overlapped
| CACNA1C | INTRON | voltage-dependent L-type calcium channel subunit alpha-1C isoform 4 |
1000 Genomes Phase 1
Diploid copy number distribution
POP CN0 CN1 CN2
ASW 0 1 44
CEU 1 10 55
CHB 0 1 77
CHS 0 0 91
CLM 0 4 45
FIN 0 6 56
GBR 0 5 49
IBS 0 0 6
JPT 0 0 69
LWK 0 0 69
MXL 0 11 43
PUR 1 2 49
TSI 0 1 82
YRI 0 0 71
AFR 0 0 140
AFR+ 0 1 184
AMR 1 17 137
ASN 0 1 237
EUR 1 22 248
ALL 2 41 806
Diploid copy number distribution (95% confident)
POP CN0 CN1 CN2
ASW 0 1 44
CEU 1 10 55
CHB 0 1 77
CHS 0 0 91
CLM 0 4 45
FIN 0 6 56
GBR 0 5 49
IBS 0 0 6
JPT 0 0 69
LWK 0 0 69
MXL 0 11 43
PUR 1 2 49
TSI 0 1 82
YRI 0 0 71
AFR 0 0 140
AFR+ 0 1 184
AMR 1 17 137
ASN 0 1 237
EUR 1 22 248
ALL 2 41 806
Imputation spider plots: ASW CEU CHB CHS CLM FIN GBR IBS JPT LWK MXL PUR TSI YRI