Genomes | |
---|---|
Filters | Pass |
Allele Count | 285 |
Allele Number | 31406 * |
Allele Frequency | 0.009075 |
Grpmax Filtering AF (95% confidence) | 0.01333 European (non-Finnish) |
Number of homozygotes | 2 |
Mean depth of coverage | 32.4 |
Warning This variant is covered in fewer than 50% of individuals in gnomAD v3.1.2 genomes. This may indicate a low-quality site.
1822 | 128308 | 17 | 0.01420 | ||
146 | 10328 | 2 | 0.01414 | ||
69 | 7154 | 0 | 0.009645 | ||
179 | 24670 | 4 | 0.007256 | ||
220 | 35390 | 2 | 0.006216 | ||
72 | 30610 | 2 | 0.002352 | ||
57 | 24330 | 0 | 0.002343 | ||
0 | 19852 | 0 | 0.000 | ||
0 | 0 | 0 | - | ||
0 | 0 | 0 | - | ||
XX | 1144 | 127806 | 8 | 0.008951 | |
XY | 1421 | 152836 | 19 | 0.009298 | |
Total | 2565 | 280642 | 27 | 0.009140 |
This variant lifts over to the following GRCh38 variant:
This variant falls on 3 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: 17-42463000-42464000
Read more about this constraint.
Expected | Observed | Constraint |
---|---|---|
125.2 | 119 | Z = 0.56 o/e = 0.95 |
View the genomic constraint values for the 40kb region surrounding this variant: 17-42443054-42483054
or find more information on the ClinVar website. Data displayed here is from ClinVar's December 30, 2024 release.
Value: No value for this metric (exome samples), 1.419e+5 (genome samples)
Site quality approximation for all variants with 0.005 <= AF < 0.01.