Variant CNV_M2_HG19_22_20402108_20509428_22_21689945_21797378
Location: chr22:20402108-20509428 (107Kb), chr22:21689945-21797378 (107Kb), distance: 1.2Mb
Site classification: Multi-allelic
Variant DCN frequency: 0.347
Genes Overlapped
Site classification: Multi-allelic
Variant DCN frequency: 0.347
Genes Overlapped
HIC2 | CDS | hypermethylated in cancer 2 protein |
RIMBP3 | GENE | RIMS-binding protein 3A |
RIMBP3B | GENE | RIMS-binding protein 3B |
1000 Genomes Phase 1
Diploid copy number distribution
POP CN0 CN1 CN2 CN3 CN4 CN5 CN6 CN7 ASW 0 0 24 14 6 1 0 0 CEU 0 0 38 24 3 0 0 1 CHB 0 0 49 25 4 0 0 0 CHS 0 0 61 28 2 0 0 0 CLM 0 0 26 19 4 0 0 0 FIN 0 0 44 16 2 0 0 0 GBR 0 0 31 23 0 0 0 0 IBS 0 0 3 1 2 0 0 0 JPT 0 0 37 28 4 0 0 0 LWK 0 0 26 25 17 1 0 0 MXL 0 0 41 8 5 0 0 0 PUR 0 0 37 14 1 0 0 0 TSI 0 0 48 24 9 2 0 0 YRI 0 0 30 25 15 0 1 0 AFR 0 0 56 50 32 1 1 0 AFR+ 0 0 80 64 38 2 1 0 AMR 0 0 104 41 10 0 0 0 ASN 0 0 147 81 10 0 0 0 EUR 0 0 164 88 16 2 0 1 ALL 0 0 495 274 74 4 1 1
Diploid copy number distribution (95% confident)
POP CN0 CN1 CN2 CN3 CN4 CN5 CN6 ASW 0 0 19 14 1 0 0 CEU 0 0 37 18 2 0 0 CHB 0 0 42 21 0 0 0 CHS 0 0 52 9 0 0 0 CLM 0 0 20 14 1 0 0 FIN 0 0 39 7 0 0 0 GBR 0 0 25 11 0 0 0 IBS 0 0 3 1 1 0 0 JPT 0 0 37 25 3 0 0 LWK 0 0 9 13 6 0 0 MXL 0 0 35 8 1 0 0 PUR 0 0 35 13 0 0 0 TSI 0 0 43 21 5 0 0 YRI 0 0 27 21 8 0 1 AFR 0 0 36 34 14 0 1 AFR+ 0 0 55 48 15 0 1 AMR 0 0 90 35 2 0 0 ASN 0 0 131 55 3 0 0 EUR 0 0 147 58 8 0 0 ALL 0 0 423 196 28 0 1
Imputation spider plots: ASW CEU CHB CHS CLM FIN GBR IBS JPT LWK MXL PUR TSI YRI