A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3546297



Internal ID18400687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:52255921..52258147hg38UCSC Ensembl
Outerchr10:52255840..52258618hg38UCSC Ensembl
Innerchr10:54015681..54017907hg19UCSC Ensembl
Outerchr10:54015600..54018378hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg382779
hg192779
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv35e215
Supporting Variantsessv9745044
Samples
Known GenesPRKG1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3546297
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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