Variant CNV_M1_HG19_12_133294966_133313596
Location: chr12:133294966-133313596 (18Kb)
Site classification: Multi-allelic
Variant DCN frequency: 0.008
Genes Overlapped
Site classification: Multi-allelic
Variant DCN frequency: 0.008
Genes Overlapped
| ANKLE2 | CDS | ankyrin repeat and LEM domain-containing protein 2 |
| PGAM5 | CDS | serine/threonine-protein phosphatase PGAM5, mitochondrial |
| POLE | INTRON | DNA polymerase epsilon catalytic subunit A |
| PXMP2 | EXON | peroxisomal membrane protein 2 |
1000 Genomes Phase 1
Diploid copy number distribution
POP CN0 CN1 CN2 CN3
ASW 0 0 45 0
CEU 0 2 64 0
CHB 0 0 78 0
CHS 0 3 88 0
CLM 0 1 48 0
FIN 0 2 60 0
GBR 0 1 53 0
IBS 0 0 6 0
JPT 0 0 69 0
LWK 0 0 69 0
MXL 0 0 54 0
PUR 0 0 52 0
TSI 0 0 83 0
YRI 0 0 70 1
AFR 0 0 139 1
AFR+ 0 0 184 1
AMR 0 1 154 0
ASN 0 3 235 0
EUR 0 5 266 0
ALL 0 9 839 1
Diploid copy number distribution (95% confident)
POP CN0 CN1 CN2 CN3
ASW 0 0 45 0
CEU 0 1 64 0
CHB 0 0 78 0
CHS 0 3 84 0
CLM 0 1 48 0
FIN 0 1 60 0
GBR 0 0 53 0
IBS 0 0 6 0
JPT 0 0 69 0
LWK 0 0 68 0
MXL 0 0 54 0
PUR 0 0 52 0
TSI 0 0 83 0
YRI 0 0 70 1
AFR 0 0 138 1
AFR+ 0 0 183 1
AMR 0 1 154 0
ASN 0 3 231 0
EUR 0 2 266 0
ALL 0 6 834 1
Imputation spider plots: ASW CEU CHB CHS CLM FIN GBR IBS JPT LWK MXL PUR TSI YRI