fa99da86-41eb-4027-b577-0f3e059aee92.multi.vqsr.filtered.denovo.vep 105.vcf.gz (File)

Name: fa99da86-41eb-4027-b577-0f3e059aee92.multi.vqsr.filtered.denovo.vep_105.vcf.gz
Creator: Kids First
Published: 2024-04-18 19:51:41.438064

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)

Md5:7d0b098967472e73fda0a0bd61a9a8d0

Filename:fa99da86-41eb-4027-b577-0f3e059aee92.multi.vqsr.filtered.denovo.vep_105.vcf.gz

Dbgap Study Id:phs002174

Creation Time:2024-04-18 19:51:41.438064

Access URL:

drs://nci-crdc.datacommons.io/.../93c2f666-adf6-4a9f-ba25-f26db984d483

Workbench DRS:

drs://cfde.cloud/481fb5eb-bbb4-5b83-b3e9-c13b71a67412

Results found

Linked to

	Label	Description
	PT MCTF1R2H Subject (Entity type)	A subject produced as part of the SD 2CEKQ05V project
	PT VEMJVQK3 Subject (Entity type)	A subject produced as part of the SD 2CEKQ05V project
	PT 7NMZ9NMP Subject (Entity type)	A subject produced as part of the SD 2CEKQ05V project
	BS 9F0B1QGN Biosample (Entity type)	A biosample from Kids First produced as part of the SD 2CEKQ05V project
	BS SKBCKMCM Biosample (Entity type)	A biosample from Kids First produced as part of the SD 2CEKQ05V project
	BS QF8GYCGS Biosample (Entity type)	A biosample from Kids First produced as part of the SD 2CEKQ05V project

PT MCTF1R2H

Subject (Entity type)

A subject produced as part of the SD 2CEKQ05V project

PT VEMJVQK3

Subject (Entity type)

A subject produced as part of the SD 2CEKQ05V project

PT 7NMZ9NMP

Subject (Entity type)

A subject produced as part of the SD 2CEKQ05V project

BS 9F0B1QGN

Biosample (Entity type)

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

BS SKBCKMCM

Biosample (Entity type)

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

BS QF8GYCGS

Biosample (Entity type)

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

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Community

Resources

@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.