a0e69996-9317-4142-844b-e49df1137cce.multi.vqsr.filtered.denovo.vep 105.vcf.gz (File)

Name: a0e69996-9317-4142-844b-e49df1137cce.multi.vqsr.filtered.denovo.vep_105.vcf.gz
Creator: Kids First
Published: 2024-04-18 19:51:50.650177

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)

Md5:dbe20016a8dc081acba3e2863b2c07a0

Filename:a0e69996-9317-4142-844b-e49df1137cce.multi.vqsr.filtered.denovo.vep_105.vcf.gz

Dbgap Study Id:phs002174

Creation Time:2024-04-18 19:51:50.650177

Access URL:

drs://nci-crdc.datacommons.io/.../a91b9f11-c67b-4244-9082-ddc64fe6da6a

Workbench DRS:

drs://cfde.cloud/220358bf-891a-5984-aa9b-29d039395334

Results found

Linked to

	Label	Description
	PT FQ5TEBRN Subject (Entity type)	A subject produced as part of the SD 2CEKQ05V project
	PT DRWN2SD0 Subject (Entity type)	A subject produced as part of the SD 2CEKQ05V project
	PT HZ19V0M4 Subject (Entity type)	A subject produced as part of the SD 2CEKQ05V project
	BS XRV1CGHV Biosample (Entity type)	A biosample from Kids First produced as part of the SD 2CEKQ05V project
	BS 3TYYJH7S Biosample (Entity type)	A biosample from Kids First produced as part of the SD 2CEKQ05V project
	BS KHW8EDXN Biosample (Entity type)	A biosample from Kids First produced as part of the SD 2CEKQ05V project

PT FQ5TEBRN

Subject (Entity type)

A subject produced as part of the SD 2CEKQ05V project

PT DRWN2SD0

Subject (Entity type)

A subject produced as part of the SD 2CEKQ05V project

PT HZ19V0M4

Subject (Entity type)

A subject produced as part of the SD 2CEKQ05V project

BS XRV1CGHV

Biosample (Entity type)

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

BS 3TYYJH7S

Biosample (Entity type)

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

BS KHW8EDXN

Biosample (Entity type)

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

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Community

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@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

Community

Resources

CFDE Workbench

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.