Exomes | Genomes | Total | |
---|---|---|---|
Filters | Pass | Pass | |
Allele Count | 12 | 3 | 15 |
Allele Number | 1461832 | 152174 | 1614006 |
Allele Frequency | 0.000008209 | 0.00001971 | 0.000009294 |
Grpmax Filtering AF (95% confidence) | 0.00002985 Admixed American | — | 0.00003233 Admixed American |
Number of homozygotes | 0 | 0 | 0 |
5 | 60006 | 0 | 0.00008333 | ||
1 | 74908 | 0 | 0.00001335 | ||
9 | 1180048 | 0 | 0.000007627 | ||
0 | 29608 | 0 | 0.000 | ||
0 | 44888 | 0 | 0.000 | ||
0 | 63992 | 0 | 0.000 | ||
0 | 6078 | 0 | 0.000 | ||
0 | 912 | 0 | 0.000 | ||
0 | 91088 | 0 | 0.000 | ||
0 | 62478 | 0 | 0.000 | ||
XX | 5 | 812428 | 0 | 0.000006154 | |
XY | 10 | 801578 | 0 | 0.00001248 | |
Total | 15 | 1614006 | 0 | 0.000009294 |
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: 2-219420000-219421000
Read more about this constraint.
Expected | Observed | Constraint |
---|---|---|
272.9 | 173 | Z = 6.04 o/e = 0.63 |
View the genomic constraint values for the 40kb region surrounding this variant: 2-219400319-219440319
or find more information on the ClinVar website. Data displayed here is from ClinVar's November 3, 2024 release.
Value: 2.440e+4 (exome samples), 1.526e+3 (genome samples)
Site quality approximation for all variants with 0 <= AF < 0.00005.
Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.