SNP Databases

An installation package including the databases dbSNP, 1000 Genomes, ExAC, ClinVar, CLINVITAE and COSMIC is available for genomes hg19 and hg38 (for hg38 1000 Genomes  and ExAC are not available).

 

NOTE: This package can be used for new installations as well as update for old installations.

 

NOTE: The database can only be used in case the genome hg19 or hg38 respectively is available in your SeqPilot installation.

 

How to install the SNP databases:

 

Update: Delete old database version first. Then proceed as explained for New installation below. Delete the folders containing the database information for the reference genome you want to replace. By default these are the following two folders of your SeqPilot installation (C:\SeqPilot):

  • For hg19: "GeneFiles\GenomeVar\hg19" and "GeneFiles\GenomeDBVar\hg19". Note: only delete the listed sub folders hg19 not the complete GeneFiles folder!
  • For hg38: "GeneFiles\GenomeVar\hg38" and "GeneFiles\GenomeDBVar\hg38". Note: only delete the listed sub folders hg38 not the complete GeneFiles folder!

New installation: unzip the file into the GeneFiles-directory of your SeqPilot installation (default: C:\SeqPilot\GeneFiles).

 

Download:

 

Download from our Website:

For Software Version 4.4

Genome Date Size
hg19-GenomeVarDB 15-August-2017 6.9 GB
hg38-GenomeVarDB 15-August-2017 3.9 GB

 

For Software Versions 4.2 and 4.3 (the ExAC database is not included)

Genome Date Size
hg19-GenomeVarDB 19-March-2015 6.9 GB
hg38-GenomeVarDB 19-March-2015 3.9 GB

 

Download from our ftp server:

All SNP DBs available here can alternatively be downloaded from our ftp-server. We recommend to use the ftp server for the download of big files, because the download can be restarted in case there is an interruption.

  • You can reach the file server using the following link: ftp://ftpsrv.jsi-medisys.de
  • Please use the following login:

    Username: SeqPilotData

    Password: SeqPilot