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472560e6-521b-4139-9a7f-84866031201d.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:472560e6-521b-4139-9a7f-84866031201d.CGP.filtered.deNovo.vep.vcf.gz
Dbgap Study Id:phs002592
Creation Time:2022-03-07 02:51:34.013669
Access URL:
s3://kf-strides-study-us-east-1-prd-sd-54g4wg4r/harmonized-data/family-variants/472560e6-521b-4139-9a7f-84866031201d.CGP.filtered.deNovo.vep.vcf.gz
Workbench DRS:
drs://cfde.cloud/86db132a-45b1-5084-af12-9c6a2719fbed
Results found

Linked to

 

Label

Description

 

Subject

PT FFPVX7EH

Subject (Entity type)

A subject produced as part of the SD 54G4WG4R project

Subject

PT 0JM760ST

Subject (Entity type)

A subject produced as part of the SD 54G4WG4R project

Subject

PT BX3EMGNV

Subject (Entity type)

A subject produced as part of the SD 54G4WG4R project

Biosample

BS C5BCYH2F

Biosample (Entity type)

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

Biosample

BS V88A3V6Z

Biosample (Entity type)

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

Biosample

BS AK4NJGG2

Biosample (Entity type)

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

  • Subject

    PT FFPVX7EH

    Subject (Entity type)

    A subject produced as part of the SD 54G4WG4R project

  • Subject

    PT 0JM760ST

    Subject (Entity type)

    A subject produced as part of the SD 54G4WG4R project

  • Subject

    PT BX3EMGNV

    Subject (Entity type)

    A subject produced as part of the SD 54G4WG4R project

  • Biosample

    BS C5BCYH2F

    Biosample (Entity type)

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

  • Biosample

    BS V88A3V6Z

    Biosample (Entity type)

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

  • Biosample

    BS AK4NJGG2

    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.