42253e58-6956-4a58-9db5-d76b47b891bb.multi.vqsr.filtered.denovo.vep 105.vcf.gz (File)

Name: 42253e58-6956-4a58-9db5-d76b47b891bb.multi.vqsr.filtered.denovo.vep_105.vcf.gz
Creator: Kids First
Published: 2024-04-18 19:52:57.322507

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:d09b92c2d2d88a89e5c73ba5cc6185d8

Filename:42253e58-6956-4a58-9db5-d76b47b891bb.multi.vqsr.filtered.denovo.vep_105.vcf.gz

Dbgap Study Id:phs002174

Creation Time:2024-04-18 19:52:57.322507

Access URL:

drs://nci-crdc.datacommons.io/.../f6fe2b72-4e87-4b4f-bbcf-8351405d8618

Workbench DRS:

drs://cfde.cloud/62af4977-c0aa-5e9e-af6f-c5a7a171e4b4

Results found

Linked to

	Label	Description
	PT VP2512GN Subject (Entity type)	A subject produced as part of the SD 2CEKQ05V project
	PT M4033YAB Subject (Entity type)	A subject produced as part of the SD 2CEKQ05V project
	PT 2DDC9M0V Subject (Entity type)	A subject produced as part of the SD 2CEKQ05V project
	BS 3QZQPYFN Biosample (Entity type)	A biosample from Kids First produced as part of the SD 2CEKQ05V project
	BS 08DFB0AE Biosample (Entity type)	A biosample from Kids First produced as part of the SD 2CEKQ05V project
	BS EMZ0E7XF Biosample (Entity type)	A biosample from Kids First produced as part of the SD 2CEKQ05V project

PT VP2512GN

Subject (Entity type)

A subject produced as part of the SD 2CEKQ05V project

PT M4033YAB

Subject (Entity type)

A subject produced as part of the SD 2CEKQ05V project

PT 2DDC9M0V

Subject (Entity type)

A subject produced as part of the SD 2CEKQ05V project

BS 3QZQPYFN

Biosample (Entity type)

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

BS 08DFB0AE

Biosample (Entity type)

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

BS EMZ0E7XF

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.