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5fd50728-3085-434e-954c-f141946cc5c3.postCGP.filtered.deNovo.vep.vcf.gz (File)

Project:

SD B8X3C1MX

Project (Entity type)
Ncbi Taxonomy:

Homo sapiens

Taxonomy (Entity type)
File Format:

VCF

File Format (Entity type)
Disease:

Goldenhar 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:5fd50728-3085-434e-954c-f141946cc5c3.postCGP.filtered.deNovo.vep.vcf.gz
Dbgap Study Id:phs002130
Creation Time:2020-11-18 21:03:03.914878
Access URL:
s3://kf-study-us-east-1-prd-sd-b8x3c1mx/harmonized/family-variants/5fd50728-3085-434e-954c-f141946cc5c3.postCGP.filtered.deNovo.vep.vcf.gz
Workbench DRS:
drs://cfde.cloud/28cea587-7e0c-525f-abf0-65cfedfcae3b
Results found

Linked to

 

Label

Description

 

Subject

PT 5G08Z5CS

Subject (Entity type)

A subject produced as part of the SD B8X3C1MX project

Subject

PT W18TAF2H

Subject (Entity type)

A subject produced as part of the SD B8X3C1MX project

Subject

PT T4AMRSR7

Subject (Entity type)

A subject produced as part of the SD B8X3C1MX project

Biosample

BS M8EB0V5R

Biosample (Entity type)

A biosample from Kids First produced as part of the SD B8X3C1MX project

Biosample

BS K772PXS2

Biosample (Entity type)

A biosample from Kids First produced as part of the SD B8X3C1MX project

Biosample

BS 4J7AF913

Biosample (Entity type)

A biosample from Kids First produced as part of the SD B8X3C1MX project

  • Subject

    PT 5G08Z5CS

    Subject (Entity type)

    A subject produced as part of the SD B8X3C1MX project

  • Subject

    PT W18TAF2H

    Subject (Entity type)

    A subject produced as part of the SD B8X3C1MX project

  • Subject

    PT T4AMRSR7

    Subject (Entity type)

    A subject produced as part of the SD B8X3C1MX project

  • Biosample

    BS M8EB0V5R

    Biosample (Entity type)

    A biosample from Kids First produced as part of the SD B8X3C1MX project

  • Biosample

    BS K772PXS2

    Biosample (Entity type)

    A biosample from Kids First produced as part of the SD B8X3C1MX project

  • Biosample

    BS 4J7AF913

    Biosample (Entity type)

    A biosample from Kids First produced as part of the SD B8X3C1MX project

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    Consortium
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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.