A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3546298



Internal ID18400688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:52256429..52258488hg38UCSC Ensembl
Outerchr10:52255906..52258704hg38UCSC Ensembl
Innerchr10:54016189..54018248hg19UCSC Ensembl
Outerchr10:54015666..54018464hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg382799
hg192799
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv35e215
Supporting Variantsessv9745045
Samples
Known GenesPRKG1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3546298
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer