Homo sapiens
Male
single organism
White
SD 7YDC1W4H
not Hispanic or Latino
2026Q3 C2M2 datapackage.zip
Kids First
Label
Description
Complete atrioventricular canal defect
A congenital heart defect characterized by a specific combination of heart defects with a common atr...
Atrioventricular canal defect
A defect of the atrioventricular septum of the heart.
Mitral regurgitation
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valv...
BS 9EQHS3KF
A biosample produced as part of the SD 7YDC1W4H project
Tricuspid regurgitation
Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causin...
BS 6MHG978R
5796a313-67c6-4be7-98f6-57c272c34ce5.ReadsPerGene.out.tab.gz
A file from Kids First produced from OBI:0001177 as part of the SD 7YDC1W4H project
4a297979-e972-4819-8998-0fd95a9c56c6.variant calling summary metrics
A file from Kids First produced from OBI:0002117 as part of the SD 7YDC1W4H project
HTP0541A.cram
4a297979-e972-4819-8998-0fd95a9c56c6.CGP.filtered.deNovo.vep.vcf.gz