Homo sapiens
Female
single organism
White
SD JWS3V24D
cancer
2026Q3 C2M2 datapackage.zip
Kids First
Label
Description
Ventricular septal defect
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the ...
Hemifacial hypoplasia
Unilateral underdevelopment of the facial tissues, including muscles and bones.
Muscular ventricular septal defect
The trabecular septum is the largest part of the interventricular septum. It extends from the membra...
BS CA05DWEP
A biosample produced as part of the SD JWS3V24D project
Abnormality of the orbital region
A Phenotype
c673b19f-c910-434d-9f99-7dde1f35894c.peddy.sex check.csv
A file from Kids First produced from OBI:0002117 as part of the SD JWS3V24D project
c673b19f-c910-434d-9f99-7dde1f35894c.CGP.filtered.deNovo.vep.vcf.gz
c673b19f-c910-434d-9f99-7dde1f35894c stats.txt
013c48dd-1da3-4b89-b0c5-3225722b02ef.variant calling detail metrics
ab3212e4-63bd-4e7e-ba9a-512bc6b512a5.single.vqsr.filtered.vep 105.vcf.gz