Exomes | Genomes | Total | |
---|---|---|---|
Filters | Pass | Pass | |
Allele Count | 3 | 1 | 4 |
Allele Number | 1160926 | 152144 | 1313070 |
Allele Frequency | 0.000002584 | 0.000006573 | 0.000003046 |
Grpmax Filtering AF (95% confidence) | — | — | — |
Number of homozygotes | 0 | 0 | 0 |
2 | 52574 | 0 | 0.00003804 | ||
1 | 43464 | 0 | 0.00002301 | ||
1 | 85024 | 0 | 0.00001176 | ||
0 | 68618 | 0 | 0.000 | ||
0 | 59528 | 0 | 0.000 | ||
0 | 27708 | 0 | 0.000 | ||
0 | 63834 | 0 | 0.000 | ||
0 | 5270 | 0 | 0.000 | ||
0 | 906138 | 0 | 0.000 | ||
0 | 912 | 0 | 0.000 | ||
XX | 2 | 646488 | 0 | 0.000003094 | |
XY | 2 | 666582 | 0 | 0.000003000 | |
Total | 4 | 1313070 | 0 | 0.000003046 |
This variant falls on 6 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: 12-102846000-102847000
Read more about this constraint.
Expected | Observed | Constraint |
---|---|---|
178.5 | 181 | Z = -0.19 o/e = 1.01 |
View the genomic constraint values for the 40kb region surrounding this variant: 12-102826824-102866824
Value: 4.917e+3 (exome samples), 1.457e+3 (genome samples)
Site quality approximation for all singleton variants.
Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.