Resource

Id:hg19/variant_frequencies/gnomAD_v2.1.1/genomes
Type:allele_score
Summary: gnomAD genomes v2.1.1 variants build from ~32,000 whole genome sequencing samples published by the Broad Institute.
Description:

gnomAD genomes v2.1.1 liftover

Original gnomAD genomes v2.1.1 liftover is downloaded on October 19, 2020 from https://gnomad.broadinstitute.org/.

tabix -s 1 -b 2 -e 2 -f gnomad..r2.1.1.extract.tsv.gz

Labels:
  • reference_genome: hg19/genomes/GATK_ResourceBundle_5777_b37_phiX174

Scores

id type default annotation description histogram range
ID str

None

variant ID NO HISTOGRAM NO DOMAIN
AC int

genome_gnomad_ac

Alternative allele count in the whole gnomAD genome samples v2.1.1 HISTOGRAM FOR AC [0.000, 31416.000]
AN int

genome_gnomad_an

Total allele count in the whole gnomAD genome samples v2.1.1 HISTOGRAM FOR AN [0.000, 31416.000]
AF float

genome_gnomad_af

Alternative allele frequency in the whole gnomAD genome samples v2.1.1 HISTOGRAM FOR AF [0.000, 1.000]
AF_percent float

genome_gnomad_af_percent

Alternative allele frequency in the whole gnomAD genome samples v2.1.1 as % HISTOGRAM FOR AF_percent [0.000, 100.000]
controls_AC int

genome_gnomad_controls_ac

Alternative allele count in the controls subset of whole gnomAD genome samples v2.1.1 HISTOGRAM FOR controls_AC [0.000, 10884.000]
controls_AN int

genome_gnomad_controls_an

gnomAD v2.1.1 liftover genome count of genotyped individuals in control group HISTOGRAM FOR controls_AN [0.000, 10884.000]
controls_AF float

genome_gnomad_controls_af

Alternative allele frequency in the controls subset of whole gnomAD genome samples v2.1.1 HISTOGRAM FOR controls_AF [0.000, 1.000]
controls_AF_percent float

genome_gnomad_controls_af_percent

Alternative allele frequency in the controls subset of whole gnomAD genome samples v2.1.1 as % HISTOGRAM FOR controls_AF_percent [0.000, 100.000]
non_neuro_AC int

genome_gnomad_non_neuro_ac

Alternative allele count in the non-neuro subset of whole gnomAD genome samples v2.1.1 HISTOGRAM FOR non_neuro_AC [0.000, 21272.000]
non_neuro_AN int

genome_gnomad_non_neuro_an

Total allele count in the non-neuro subset of whole gnomAD genome samples v2.1.1 HISTOGRAM FOR non_neuro_AN [0.000, 21272.000]
non_neuro_AF float

genome_gnomad_non_neuro_af

Alternative allele frequency in the non-neuro subset of whole gnomAD genome samples v2.1.1 HISTOGRAM FOR non_neuro_AF [0.000, 1.000]
non_neuro_AF_percent float

genome_gnomad_non_neuro_af_percent

Alternative allele frequency in the non-neuro subset of whole gnomAD genome samples v2.1.1 as % HISTOGRAM FOR non_neuro_AF_percent [0.000, 100.000]

Files

Filename Size md5
genomic_resource.yaml 5.17 KB 06f0dc04443971ddb671939b018a8818
gnomad.genomes.r2.1.1.sites-exported.txt.gz 12.27 GB 3a6418c74dcce16a59ba1d9710935c7b
gnomad.genomes.r2.1.1.sites-exported.txt.gz.dvc 118.0 B ae1397bd81aeb59a2a744e06874e051e
gnomad.genomes.r2.1.1.sites-exported.txt.gz.tbi 2.57 MB d3b2dc434e68537e5e7f19cae68477aa
gnomad.genomes.r2.1.1.sites-exported.txt.gz.tbi.dvc 118.0 B 3a4722247603d8f6cbec463d332f5f0b
statistics/