Variant CNV_M2_HG19_2_86935957_86970206_2_87280767_87315002
Location: chr2:86935957-86970206 (34Kb), chr2:87280767-87315002 (34Kb), distance: 310Kb
Site classification: Duplication
Variant DCN frequency: 0.004
Genes Overlapped
Site classification: Duplication
Variant DCN frequency: 0.004
Genes Overlapped
| CHMP3 | EXON | charged multivesicular body protein 3 |
| RMND5A | CDS | protein RMD5 homolog A |
| RNF103-CHMP3 | EXON | RNF103-CHMP3 protein |
1000 Genomes Phase 1
Diploid copy number distribution
POP CN0 CN1 CN2 CN3 CN4 CN5
ASW 0 0 0 0 45 0
CEU 0 0 0 0 66 0
CHB 0 0 0 0 77 1
CHS 0 0 0 0 90 1
CLM 0 0 0 0 49 0
FIN 0 0 0 0 62 0
GBR 0 0 0 0 54 0
IBS 0 0 0 0 6 0
JPT 0 0 0 0 68 1
LWK 0 0 0 0 69 0
MXL 0 0 0 0 54 0
PUR 0 0 0 0 52 0
TSI 0 0 0 0 83 0
YRI 0 0 0 0 71 0
AFR 0 0 0 0 140 0
AFR+ 0 0 0 0 185 0
AMR 0 0 0 0 155 0
ASN 0 0 0 0 235 3
EUR 0 0 0 0 271 0
ALL 0 0 0 0 846 3
Diploid copy number distribution (95% confident)
POP CN0 CN1 CN2 CN3 CN4 CN5
ASW 0 0 0 0 45 0
CEU 0 0 0 0 66 0
CHB 0 0 0 0 77 1
CHS 0 0 0 0 90 1
CLM 0 0 0 0 48 0
FIN 0 0 0 0 62 0
GBR 0 0 0 0 54 0
IBS 0 0 0 0 6 0
JPT 0 0 0 0 68 1
LWK 0 0 0 0 69 0
MXL 0 0 0 0 54 0
PUR 0 0 0 0 52 0
TSI 0 0 0 0 83 0
YRI 0 0 0 0 71 0
AFR 0 0 0 0 140 0
AFR+ 0 0 0 0 185 0
AMR 0 0 0 0 154 0
ASN 0 0 0 0 235 3
EUR 0 0 0 0 271 0
ALL 0 0 0 0 845 3
Imputation spider plots: ASW CEU CHB CHS CLM FIN GBR IBS JPT LWK MXL PUR TSI YRI