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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-7707377073
Allele Number-151976151976
Allele Frequency-0.50710.5071
Grpmax Filtering AF
(95% confidence)
-0.8607
East Asian
0.8607
East Asian
Number of homozygotes-2112721127

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Genetic Ancestry Group Frequencies

4564517420150.8821
3180481410510.6606
272224146289750.6566
87941527225900.5758
108821082940.5161
140292350.4795
4249081000.4670
4230105308310.4017
136934702630.3945
260626794649730.3836
XX3898177742104970.5014
XY3809274234106300.5131
Total77073151976211270.5071
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 0 transcripts in 0 genes.

Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.

    In Silico Predictors

    • CADD: 0.265
    • phyloP: -5.86
    Note For more detailed and up to date SpliceAI and Pangolin predictions, please visit our SpliceAI Lookup browser

    Genomic Constraint of Surrounding 1kb Region

    Genomic constraint values displayed are for the region: 6-138710000-138711000

    Read more about this constraint.

    ExpectedObservedConstraint
    157.1147Z = 0.81
    o/e = 0.94
    Z Score not constrainedconstrained2.184.0

    View the genomic constraint values for the 40kb region surrounding this variant: 6-138690055-138730055

    Age Distribution

    • Exome
    • Genome
    • Variant carriers
    • All individuals
    < 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age05001.00K1.50K2.00K2.50K3.00KVariant carriers05001.00K1.50K2.00K2.50K3.00K3.50K4.00KAll individuals

    Genotype Quality Metrics

    • Exome
    • Genome
    • Variant carriers
    • All individuals
    0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality05.00K10.0K15.0K20.0K25.0K30.0K35.0K40.0KVariant carriers05.00K10.0K15.0K20.0K25.0K30.0K35.0K40.0KAll individuals

    Site Quality Metrics

    • Exome
    • Genome
    1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0100K200K300K400K500K600K700K800K900K1.00M1.10M1.20MGenome variants7.643e+7

    Value: 7.643e+7 (genome samples)

    Site quality approximation for all variants with AF >= 0.5.

    Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.

    Read Data


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