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31e923b7-8e39-44cd-b066-d66d2d7f04a9.CGP.filtered.deNovo.vep.vcf.gz.tbi (File)

Project:

SD 54G4WG4R

Project (Entity type)
Ncbi Taxonomy:

Homo sapiens

Taxonomy (Entity type)
File Format:

tabix

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:

Data index

Data Type (Entity type)
Assay Type:

whole genome sequencing assay

Assay Type (Entity type)
Anatomy:

mouth

Anatomy (Entity type)
Filename:31e923b7-8e39-44cd-b066-d66d2d7f04a9.CGP.filtered.deNovo.vep.vcf.gz.tbi
Dbgap Study Id:phs002592
Creation Time:2022-03-07 03:03:19.388315
Access URL:
s3://kf-strides-study-us-east-1-prd-sd-54g4wg4r/harmonized-data/family-variants/31e923b7-8e39-44cd-b066-d66d2d7f04a9.CGP.filtered.deNovo.vep.vcf.gz.tbi
Workbench DRS:
drs://cfde.cloud/401c87f7-87ab-5060-bdea-6f03a7f7f1ed
Results found

Linked to

 

Label

Description

 

Subject

PT XK3QMMYM

Subject (Entity type)

A subject produced as part of the SD 54G4WG4R project

Subject

PT GA2YGPF2

Subject (Entity type)

A subject produced as part of the SD 54G4WG4R project

Subject

PT X460JPTC

Subject (Entity type)

A subject produced as part of the SD 54G4WG4R project

Biosample

BS P438CAPH

Biosample (Entity type)

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

Biosample

BS TQKRVZ0B

Biosample (Entity type)

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

Biosample

BS NMH18220

Biosample (Entity type)

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

  • Subject

    PT XK3QMMYM

    Subject (Entity type)

    A subject produced as part of the SD 54G4WG4R project

  • Subject

    PT GA2YGPF2

    Subject (Entity type)

    A subject produced as part of the SD 54G4WG4R project

  • Subject

    PT X460JPTC

    Subject (Entity type)

    A subject produced as part of the SD 54G4WG4R project

  • Biosample

    BS P438CAPH

    Biosample (Entity type)

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

  • Biosample

    BS TQKRVZ0B

    Biosample (Entity type)

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

  • Biosample

    BS NMH18220

    Biosample (Entity type)

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

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    Consortium
    About the CFDECF ProgramsCFDE CentersPartnershipsPilot Projects
    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.