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70c3c805-1f14-4b6a-a63d-ab250d1fac07.CGP.filtered.deNovo.vep.vcf.gz (File)

Project:

SD 54G4WG4R

Project (Entity type)
Ncbi Taxonomy:

Homo sapiens

Taxonomy (Entity type)
File Format:

VCF

File Format (Entity type)
Disease:

CHARGE syndrome

Disease (Entity type)
Dcc Asset:

2026Q3 C2M2 datapackage.zip

Processed File (Entity type)
Dcc:

Kids First

DCC (Entity type)
Data Type:

Sequence variations

Data Type (Entity type)
Assay Type:

whole genome sequencing assay

Assay Type (Entity type)
Filename:70c3c805-1f14-4b6a-a63d-ab250d1fac07.CGP.filtered.deNovo.vep.vcf.gz
Dbgap Study Id:phs002592
Creation Time:2022-03-07 03:01:14.509901
Access URL:
s3://kf-strides-study-us-east-1-prd-sd-54g4wg4r/harmonized-data/family-variants/70c3c805-1f14-4b6a-a63d-ab250d1fac07.CGP.filtered.deNovo.vep.vcf.gz
Workbench DRS:
drs://cfde.cloud/513c30c8-f103-5037-b769-7c38b973bceb
Results found

Linked to

 

Label

Description

 

Subject

PT JWTV8KJ2

Subject (Entity type)

A subject produced as part of the SD 54G4WG4R project

Subject

PT CP304XAF

Subject (Entity type)

A subject produced as part of the SD 54G4WG4R project

Subject

PT QCC7P8WX

Subject (Entity type)

A subject produced as part of the SD 54G4WG4R project

Biosample

BS WER400QX

Biosample (Entity type)

A biosample from Kids First produced as part of the SD 54G4WG4R project

Biosample

BS JD87D8D9

Biosample (Entity type)

A biosample from Kids First produced as part of the SD 54G4WG4R project

Biosample

BS MFAE75TZ

Biosample (Entity type)

A biosample from Kids First produced as part of the SD 54G4WG4R project

  • Subject

    PT JWTV8KJ2

    Subject (Entity type)

    A subject produced as part of the SD 54G4WG4R project

  • Subject

    PT CP304XAF

    Subject (Entity type)

    A subject produced as part of the SD 54G4WG4R project

  • Subject

    PT QCC7P8WX

    Subject (Entity type)

    A subject produced as part of the SD 54G4WG4R project

  • Biosample

    BS WER400QX

    Biosample (Entity type)

    A biosample from Kids First produced as part of the SD 54G4WG4R project

  • Biosample

    BS JD87D8D9

    Biosample (Entity type)

    A biosample from Kids First produced as part of the SD 54G4WG4R project

  • Biosample

    BS MFAE75TZ

    Biosample (Entity type)

    A biosample from Kids First produced as part of the SD 54G4WG4R project

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    Community
    Workbench TutorialTraining & OutreachDocumentationGet QR CodesFunding Opportunities
    Resources
    Data & MetadataToolsChatbotUse CasesPublications
    CFDE Workbench
    Report a bug
    The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.
    @CFDE Workbench 2026
    This repository is under review for potential modification in compliance with Administration directives.