With this application it is possible to obtain the sequence of a human genomic region.
Any genomic polymorphisms will be signaled with different colors which represent a frequency range of the variant.
Genomic polymorphism were derived from:
- dbSNPS 151 (GRCh37 and GRCh38) from NCBI (file 00_All.vcf, only SNPs validate)
- Frequencies from GnomAD:
gnomAD v2.1.1 for GRCh37/hg19 (exomes and genomes)
gnomAD v3.0 for GRCh38/hg38 (genomes)
It is possible to obtain the sequence starting from the left end, or obtain the sequence around of a center.

Get the genomic sequence
select Human GenomeRelease:
chr:    Position:
Size:    Around (+/-) a Pos
   From Pos

Try our example

Chromosome 1; Genomic Position center in 156114969; Genomic Release: hg38
Reference:
GnomAD(*) K.J. Karczewski et al.: Variation across 141,456 human exomes and genomes reveals the spectrum
of loss-of-function intolerance across human protein-coding genes (bioRxiv 2019)