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aa1de54e-febd-40bf-a732-55c39e962af5.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:aa1de54e-febd-40bf-a732-55c39e962af5.CGP.filtered.deNovo.vep.vcf.gz
Dbgap Study Id:phs002592
Creation Time:2022-03-07 03:09:30.228351
Access URL:
s3://kf-strides-study-us-east-1-prd-sd-54g4wg4r/harmonized-data/family-variants/aa1de54e-febd-40bf-a732-55c39e962af5.CGP.filtered.deNovo.vep.vcf.gz
Workbench DRS:
drs://cfde.cloud/29279908-99db-5d14-97ce-b0094b8eac27
Results found

Linked to

 

Label

Description

 

Subject

PT Y2KCCCB5

Subject (Entity type)

A subject produced as part of the SD 54G4WG4R project

Subject

PT X6DHHP5X

Subject (Entity type)

A subject produced as part of the SD 54G4WG4R project

Subject

PT YVHYBVFX

Subject (Entity type)

A subject produced as part of the SD 54G4WG4R project

Biosample

BS 6K5RK3GH

Biosample (Entity type)

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

Biosample

BS Z7QCRA71

Biosample (Entity type)

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

Biosample

BS NY5ZRPMM

Biosample (Entity type)

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

  • Subject

    PT Y2KCCCB5

    Subject (Entity type)

    A subject produced as part of the SD 54G4WG4R project

  • Subject

    PT X6DHHP5X

    Subject (Entity type)

    A subject produced as part of the SD 54G4WG4R project

  • Subject

    PT YVHYBVFX

    Subject (Entity type)

    A subject produced as part of the SD 54G4WG4R project

  • Biosample

    BS 6K5RK3GH

    Biosample (Entity type)

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

  • Biosample

    BS Z7QCRA71

    Biosample (Entity type)

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

  • Biosample

    BS NY5ZRPMM

    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.