Variant CNV_M1_HG19_19_17443159_17449780
Location: chr19:17443159-17449780 (6.6Kb)
Site classification: Duplication
Variant DCN frequency: 0.014
Genes Overlapped
Site classification: Duplication
Variant DCN frequency: 0.014
Genes Overlapped
ANO8 | CDS | anoctamin-8 |
GTPBP3 | CDS | tRNA modification GTPase GTPBP3, mitochondrial |
1000 Genomes Phase 1
Diploid copy number distribution
POP CN0 CN1 CN2 CN3 CN4 ASW 0 0 45 0 0 CEU 0 0 64 1 1 CHB 0 0 78 0 0 CHS 0 0 91 0 0 CLM 0 0 48 1 0 FIN 0 0 60 2 0 GBR 0 0 51 3 0 IBS 0 0 5 0 1 JPT 0 0 69 0 0 LWK 0 0 69 0 0 MXL 0 0 54 0 0 PUR 0 0 50 2 0 TSI 0 0 80 2 1 YRI 0 0 71 0 0 AFR 0 0 140 0 0 AFR+ 0 0 185 0 0 AMR 0 0 152 3 0 ASN 0 0 238 0 0 EUR 0 0 260 8 3 ALL 0 0 835 11 3
Diploid copy number distribution (95% confident)
POP CN0 CN1 CN2 CN3 CN4 ASW 0 0 44 0 0 CEU 0 0 64 1 1 CHB 0 0 78 0 0 CHS 0 0 91 0 0 CLM 0 0 44 1 0 FIN 0 0 59 0 0 GBR 0 0 51 3 0 IBS 0 0 5 0 1 JPT 0 0 69 0 0 LWK 0 0 67 0 0 MXL 0 0 54 0 0 PUR 0 0 49 2 0 TSI 0 0 80 2 1 YRI 0 0 71 0 0 AFR 0 0 138 0 0 AFR+ 0 0 182 0 0 AMR 0 0 147 3 0 ASN 0 0 238 0 0 EUR 0 0 259 6 3 ALL 0 0 826 9 3
Imputation spider plots: ASW CEU CHB CHS CLM FIN GBR IBS JPT LWK MXL PUR TSI YRI