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e6e607ed-2a8c-48dd-8459-615b1b85ef9b.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/4a203db9-9034-45ac-b37f-e31f5d4ac8a2
Filename:e6e607ed-2a8c-48dd-8459-615b1b85ef9b.multi.vqsr.filtered.denovo.vep_105.vcf.gz
Dbgap Study Id:phs002130
Creation Time:2024-06-26T18:42:04.058556
Access Url:
s3://kf-study-us-east-1-prd-sd-b8x3c1mx/harmonized-data/family-variants/e6e607ed-2a8c-48dd-8459-615b1b85ef9b.multi.vqsr.filtered.denovo.vep_105.vcf.gz
Results found

Linked to

 

Label

Description

 

Biosample

BS E34DG33D

Biosample (Entity type)

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

Subject

PT 1QB502P9

Subject (Entity type)

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

Subject

PT 8EQDD7SF

Subject (Entity type)

A subject produced as part of the SD B8X3C1MX project

Biosample

BS 0XB7Q05G

Biosample (Entity type)

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

Subject

PT 9TC8M1JR

Subject (Entity type)

A subject produced as part of the SD B8X3C1MX project

Biosample

BS ZSKBC9S7

Biosample (Entity type)

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

  • Biosample

    BS E34DG33D

    Biosample (Entity type)

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

  • Subject

    PT 1QB502P9

    Subject (Entity type)

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

  • Subject

    PT 8EQDD7SF

    Subject (Entity type)

    A subject produced as part of the SD B8X3C1MX project

  • Biosample

    BS 0XB7Q05G

    Biosample (Entity type)

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

  • Subject

    PT 9TC8M1JR

    Subject (Entity type)

    A subject produced as part of the SD B8X3C1MX project

  • Biosample

    BS ZSKBC9S7

    Biosample (Entity type)

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