Exomes | Genomes | Total | |
---|---|---|---|
Filters | Pass | No variant | |
Allele Count | 2 | 0 | 2 |
Allele Number | 1460716 | 152226 | 1612942 |
Allele Frequency | 0.000001369 | 0.000001240 | |
Grpmax Filtering AF (95% confidence) | — | — | |
Number of homozygotes | 0 | 0 |
1 | 91050 | 0 | 0.00001098 | ||
1 | 1179362 | 0 | 8.479e-7 | ||
0 | 74984 | 0 | 0.000 | ||
0 | 59924 | 0 | 0.000 | ||
0 | 29564 | 0 | 0.000 | ||
0 | 44858 | 0 | 0.000 | ||
0 | 63790 | 0 | 0.000 | ||
0 | 6054 | 0 | 0.000 | ||
0 | 910 | 0 | 0.000 | ||
0 | 62446 | 0 | 0.000 | ||
XX | 0 | 811858 | 0 | 0.000 | |
XY | 2 | 801084 | 0 | 0.000002497 | |
Total | 2 | 1612942 | 0 | 0.000001240 |
This variant falls on 2 transcripts in 1 gene.
Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.
Genomic constraint values displayed are for the region: 19-18062000-18063000
Read more about this constraint.
Expected | Observed | Constraint |
---|---|---|
163.8 | 131 | Z = 2.56 o/e = 0.8 |
View the genomic constraint values for the 40kb region surrounding this variant: 19-18042246-18082246
or find more information on the ClinVar website. Data displayed here is from ClinVar's February 1, 2025 release.
Value: 1.158e+3 (exome samples)
Site quality approximation for all doubleton variants.
Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.