CFDE Workbench
DataKnowledgeCloudtrainingcoordination
CFDE Workbench

5a7cd2dd-2970-40f4-b069-d6cb6a9e12f1.multi.vqsr.filtered.denovo.vep 105.vcf.gz (File)

Taxon:

Homo sapiens

Taxon (Entity type)
Project:

SD B8X3C1MX

Project (Entity type)
File Format:

VCF

File Format (Entity type)
Disease:

Goldenhar syndrome

Disease (Entity type)
Dcc Asset:

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)
Persistent Id:drs://nci-crdc.datacommons.io/dg.4DFC/36082ddc-dd6c-4d49-b568-2f263fe05602
Filename:5a7cd2dd-2970-40f4-b069-d6cb6a9e12f1.multi.vqsr.filtered.denovo.vep_105.vcf.gz
Dbgap Study Id:phs002130
Creation Time:2024-06-26T18:42:26.938793
Access Url:
s3://kf-study-us-east-1-prd-sd-b8x3c1mx/harmonized-data/family-variants/5a7cd2dd-2970-40f4-b069-d6cb6a9e12f1.multi.vqsr.filtered.denovo.vep_105.vcf.gz
Results found

Linked to

 

Label

Description

 

Subject

PT 7DD135A8

Subject (Entity type)

A subject produced as part of the SD B8X3C1MX project

Biosample

BS 3FMD13WH

Biosample (Entity type)

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

Subject

PT M0C7JYSV

Subject (Entity type)

A subject produced as part of the SD B8X3C1MX project

Subject

PT 1RTYMME9

Subject (Entity type)

A subject produced as part of the SD B8X3C1MX project

Biosample

BS CPA9P5JH

Biosample (Entity type)

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

Biosample

BS 4YHYPMSM

Biosample (Entity type)

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

  • Subject

    PT 7DD135A8

    Subject (Entity type)

    A subject produced as part of the SD B8X3C1MX project

  • Biosample

    BS 3FMD13WH

    Biosample (Entity type)

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

  • Subject

    PT M0C7JYSV

    Subject (Entity type)

    A subject produced as part of the SD B8X3C1MX project

  • Subject

    PT 1RTYMME9

    Subject (Entity type)

    A subject produced as part of the SD B8X3C1MX project

  • Biosample

    BS CPA9P5JH

    Biosample (Entity type)

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

  • Biosample

    BS 4YHYPMSM

    Biosample (Entity type)

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

    • DISPLAY PER PAGE
    CFDE Workbench
    Report a bug
    Consortium
    About the CFDECF ProgramsCFDE CentersPartnershipsPilot Projects
    Community
    Workbench TutorialTraining & OutreachDocumentationGet QR CodesFunding Opportunities
    Resources
    Data & MetadataToolsChatbotUse CasesPublications
    @CFDE Workbench 2026
    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.
    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.