Exomes | Genomes | Total | |
---|---|---|---|
Filters | Pass | Pass | |
Allele Count | 4 | 1 | 5 |
Allele Number | 251408 | 31398 | 282806 |
Allele Frequency | 0.00001591 | 0.00003185 | 0.00001768 |
Grpmax Filtering AF (95% confidence) | 0.00001122 European (non-Finnish) | — | |
Number of homozygotes | 0 | 0 | 0 |
Mean depth of coverage | 79.0 | 32.1 |
5 | 129126 | 0 | 0.00003872 | ||
0 | 35436 | 0 | 0.000 | ||
0 | 24964 | 0 | 0.000 | ||
0 | 10366 | 0 | 0.000 | ||
0 | 19954 | 0 | 0.000 | ||
0 | 25122 | 0 | 0.000 | ||
0 | 30612 | 0 | 0.000 | ||
0 | 7226 | 0 | 0.000 | ||
XX | 1 | 129456 | 0 | 0.000007725 | |
XY | 4 | 153350 | 0 | 0.00002608 | |
Total | 5 | 282806 | 0 | 0.00001768 |
* Allele frequencies for some sub-continental populations were not computed for genome samples.
This variant lifts over to the following GRCh38 variant:
Check if this variant occurs on the same haplotype as another variant.
This variant falls on 5 transcripts in 2 genes.
Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.
or find more information on the ClinVar website. Data displayed here is from ClinVar's December 30, 2024 release.
Note: This plot may include low-quality genotypes that were excluded from allele counts in the tables above.
Value: 1.532e+4 (exome samples), 1.138e+3 (genome samples)
This is the site quality distribution for all exome variants with 0 <= AF < 0.00005 and all singleton genome variants.
Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.