Variant CNV_M2_HG19_1_25585374_25594516_1_25655517_25664845
Location: chr1:25585374-25594516 (9.1Kb), chr1:25655517-25664845 (9.3Kb), distance: 61Kb
Site classification: Duplication
Variant DCN frequency: 0.307
Genes Overlapped
Site classification: Duplication
Variant DCN frequency: 0.307
Genes Overlapped
C1orf63 | EXON | UPF0471 protein C1orf63 |
RHD | CDS | blood group Rh(D) polypeptide isoform 1 |
TMEM50A | EXON | transmembrane protein 50A |
1000 Genomes Phase 1
Diploid copy number distribution
POP CN0 CN1 CN2 CN3 CN4 CN5 ASW 0 0 0 18 27 0 CEU 0 0 9 35 22 0 CHB 0 0 0 13 64 1 CHS 0 0 0 6 85 0 CLM 0 0 6 14 29 0 FIN 0 0 5 30 27 0 GBR 0 0 8 21 24 1 IBS 0 0 2 3 1 0 JPT 0 0 0 8 61 0 LWK 0 0 2 7 60 0 MXL 0 0 2 12 40 0 PUR 0 0 5 29 18 0 TSI 0 0 11 40 32 0 YRI 0 0 4 11 56 0 AFR 0 0 6 18 116 0 AFR+ 0 0 6 36 143 0 AMR 0 0 13 55 87 0 ASN 0 0 0 27 210 1 EUR 0 0 35 129 106 1 ALL 0 0 54 247 546 2
Diploid copy number distribution (95% confident)
POP CN0 CN1 CN2 CN3 CN4 ASW 0 0 0 13 21 CEU 0 0 5 26 18 CHB 0 0 0 7 58 CHS 0 0 0 2 62 CLM 0 0 3 9 24 FIN 0 0 2 16 19 GBR 0 0 7 13 23 IBS 0 0 2 2 0 JPT 0 0 0 4 59 LWK 0 0 1 3 46 MXL 0 0 2 8 34 PUR 0 0 5 18 13 TSI 0 0 10 31 32 YRI 0 0 4 11 52 AFR 0 0 5 14 98 AFR+ 0 0 5 27 119 AMR 0 0 10 35 71 ASN 0 0 0 13 179 EUR 0 0 26 88 92 ALL 0 0 41 163 461
Imputation spider plots: ASW CEU CHB CHS CLM FIN GBR IBS JPT LWK MXL PUR TSI YRI