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2c42a2ac-e786-46dd-a53b-60cc81c7b2ff.multi.vqsr.filtered.denovo.vep 105.vcf.gz (File)

Taxon:

Homo sapiens

Taxon (Entity type)
Project:

SD 2CEKQ05V

Project (Entity type)
File Format:

VCF

File Format (Entity type)
Disease:

Cornelia de Lange 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/d2f7eee9-6464-47d2-8e40-9822335f140f
Filename:2c42a2ac-e786-46dd-a53b-60cc81c7b2ff.multi.vqsr.filtered.denovo.vep_105.vcf.gz
Dbgap Study Id:phs002174
Creation Time:2024-04-18T19:52:39.417743
Access Url:
s3://kf-study-us-east-1-prd-sd-2cekq05v/harmonized-data/family-variants/2c42a2ac-e786-46dd-a53b-60cc81c7b2ff.multi.vqsr.filtered.denovo.vep_105.vcf.gz
Results found

Linked to

 

Label

Description

 

Subject

PT GJX9AWM0

Subject (Entity type)

A subject produced as part of the SD 2CEKQ05V project

Biosample

BS DXG1ECT3

Biosample (Entity type)

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

Subject

PT 1H7JA832

Subject (Entity type)

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

Biosample

BS AC27XGC9

Biosample (Entity type)

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

Subject

PT XVXN2S9B

Subject (Entity type)

A subject produced as part of the SD 2CEKQ05V project

Biosample

BS 8KNGYFVQ

Biosample (Entity type)

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

  • Subject

    PT GJX9AWM0

    Subject (Entity type)

    A subject produced as part of the SD 2CEKQ05V project

  • Biosample

    BS DXG1ECT3

    Biosample (Entity type)

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

  • Subject

    PT 1H7JA832

    Subject (Entity type)

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

  • Biosample

    BS AC27XGC9

    Biosample (Entity type)

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

  • Subject

    PT XVXN2S9B

    Subject (Entity type)

    A subject produced as part of the SD 2CEKQ05V project

  • Biosample

    BS 8KNGYFVQ

    Biosample (Entity type)

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

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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.