Variant CNV_M1_HG19_2_48850983_48857831
Location: chr2:48850983-48857831 (6.8Kb)
Site classification: Deletion
Variant DCN frequency: 0.235
Genes Overlapped
Site classification: Deletion
Variant DCN frequency: 0.235
Genes Overlapped
| GTF2A1L | INTRON | TFIIA-alpha and beta-like factor |
| STON1-GTF2A1L | INTRON | STON1-GTF2A1L protein isoform 3 |
1000 Genomes Phase 1
Diploid copy number distribution
POP CN0 CN1 CN2
ASW 0 12 33
CEU 2 28 36
CHB 0 10 68
CHS 0 13 78
CLM 1 11 37
FIN 4 20 38
GBR 2 16 36
IBS 0 1 5
JPT 0 8 61
LWK 0 5 64
MXL 2 17 35
PUR 0 16 36
TSI 4 23 56
YRI 0 6 65
AFR 0 11 129
AFR+ 0 23 162
AMR 3 44 108
ASN 0 31 207
EUR 12 88 171
ALL 15 186 648
Diploid copy number distribution (95% confident)
POP CN0 CN1 CN2
ASW 0 12 33
CEU 2 28 36
CHB 0 10 68
CHS 0 13 78
CLM 1 11 37
FIN 4 18 38
GBR 2 16 36
IBS 0 1 5
JPT 0 8 61
LWK 0 5 64
MXL 2 17 35
PUR 0 16 36
TSI 4 23 56
YRI 0 6 65
AFR 0 11 129
AFR+ 0 23 162
AMR 3 44 108
ASN 0 31 207
EUR 12 86 171
ALL 15 184 648
Imputation spider plots: ASW CEU CHB CHS CLM FIN GBR IBS JPT LWK MXL PUR TSI YRI