Exomes | Genomes | Total | |
---|---|---|---|
Filters | Pass | No variant | |
Allele Count | 2 | 0 | 2 |
Allele Number | 1461858 | 152292 | 1614150 |
Allele Frequency | 0.000001368 | 0.000001239 | |
Grpmax Filtering AF (95% confidence) | 3.000e-7 European (non-Finnish) | 2.800e-7 European (non-Finnish) | |
Number of homozygotes | 0 | 0 |
2 | 1180018 | 0 | 0.000001695 | ||
0 | 75032 | 0 | 0.000 | ||
0 | 60022 | 0 | 0.000 | ||
0 | 29608 | 0 | 0.000 | ||
0 | 44880 | 0 | 0.000 | ||
0 | 64034 | 0 | 0.000 | ||
0 | 6062 | 0 | 0.000 | ||
0 | 912 | 0 | 0.000 | ||
0 | 91072 | 0 | 0.000 | ||
0 | 62510 | 0 | 0.000 | ||
XX | 1 | 812462 | 0 | 0.000001231 | |
XY | 1 | 801688 | 0 | 0.000001247 | |
Total | 2 | 1614150 | 0 | 0.000001239 |
The following GRCh37 variant lifts over to this variant:
This variant falls on 4 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: 16-13948000-13949000
Read more about this constraint.
Expected | Observed | Constraint |
---|---|---|
219.4 | 204 | Z = 1.04 o/e = 0.93 |
View the genomic constraint values for the 40kb region surrounding this variant: 16-13928070-13968070
or find more information on the ClinVar website. Data displayed here is from ClinVar's November 3, 2024 release.
Value: 5.203e+4 (exome samples)
Site quality approximation for all doubleton variants.
Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.