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710ed7e0-6075-448c-922e-9ec24e70b413.postCGP.filtered.deNovo.vep.vcf.gz (File)

Project:

SD 2CEKQ05V

Project (Entity type)
Ncbi Taxonomy:

Homo sapiens

Taxonomy (Entity type)
File Format:

VCF

File Format (Entity type)
Disease:

Cornelia de Lange 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:710ed7e0-6075-448c-922e-9ec24e70b413.postCGP.filtered.deNovo.vep.vcf.gz
Dbgap Study Id:phs002174
Creation Time:2021-08-10 05:48:24.654056
Access URL:
s3://kf-study-us-east-1-prd-sd-2cekq05v/harmonized-data/family-variants/710ed7e0-6075-448c-922e-9ec24e70b413.postCGP.filtered.deNovo.vep.vcf.gz
Workbench DRS:
drs://cfde.cloud/46248a8e-d56e-5d53-b5f4-d43b31a393c0
Results found

Linked to

 

Label

Description

 

Subject

PT C2EDS1T4

Subject (Entity type)

A subject produced as part of the SD 2CEKQ05V project

Subject

PT 0WN1HQ3Y

Subject (Entity type)

A subject produced as part of the SD 2CEKQ05V project

Subject

PT Q4CCMG1H

Subject (Entity type)

A subject produced as part of the SD 2CEKQ05V project

Biosample

BS PB2RQRFV

Biosample (Entity type)

A biosample from Kids First produced as part of the SD 2CEKQ05V project

Biosample

BS XQGTKJ91

Biosample (Entity type)

A biosample from Kids First produced as part of the SD 2CEKQ05V project

Biosample

BS 68BTM6ZX

Biosample (Entity type)

A biosample from Kids First produced as part of the SD 2CEKQ05V project

  • Subject

    PT C2EDS1T4

    Subject (Entity type)

    A subject produced as part of the SD 2CEKQ05V project

  • Subject

    PT 0WN1HQ3Y

    Subject (Entity type)

    A subject produced as part of the SD 2CEKQ05V project

  • Subject

    PT Q4CCMG1H

    Subject (Entity type)

    A subject produced as part of the SD 2CEKQ05V project

  • Biosample

    BS PB2RQRFV

    Biosample (Entity type)

    A biosample from Kids First produced as part of the SD 2CEKQ05V project

  • Biosample

    BS XQGTKJ91

    Biosample (Entity type)

    A biosample from Kids First produced as part of the SD 2CEKQ05V project

  • Biosample

    BS 68BTM6ZX

    Biosample (Entity type)

    A biosample from Kids First produced as part of the SD 2CEKQ05V 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.