在1000genome的FTP服务器上可以下载一个all的vcf文件,里面可以看到AFR, AMR, EAS, EUR, SAS人群的allele频率,但是该种族下面的亚群的频率信息需要在http://grch37.ensembl.org搜索得到,比如 http://grch37.ensembl.org/Homo_sapiens/Variation/Population?db=core;r=1:230845294-230846294;v=rs699;vdb=variation;vf=102788013 ,还有一种方式,就是下载包含所有样本的突变信息的VCF文件,利用vcftools计算。
The allele frequency of super population (AFR, AMR, EAS, EUR, SAS, see http://www.1000genomes.org/category/population/) can be obtained from all.vcf.
However, the allele population frequency in subpopulation is not well obtained.
One way is search the web http://grch37.ensembl.org by rs identifier, E.g. http://grch37.ensembl.org/Homo_sapiens/Variation/Population?db=core;r=1:230845294-230846294;v=rs699;vdb=variation;vf=102788013 .
Another way is calculated on your local machine. The following will introduce how to get allele frequency of CHB population in chr1 chromosome. CHB Han Chinese in Beijing
Prepare file and software dependency
panel file contains sample information
panel file: integrated_call_samples_v3.20130502.ALL.panel
vcf file contains allele information of all samples
chr1.vcf: ALL.chr1.phase3_shapeit2_mvncall_integrated_v5a.20130502.genotypes.vcf
Also, you should install vcftools.
wget ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/integrated_call_samples_v3.20130502.ALL.panel wget ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/ALL.chr1.phase3_shapeit2_mvncall_integrated_v5a.20130502.genotypes.vcf.gz git clone https://github.com/vcftools/vcftools.git cd vcftools/ ./autogen.sh ./configure make make install cd ..