A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3546293



Internal ID18400683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:52067983..52068210hg38UCSC Ensembl
Outerchr10:52067875..52068279hg38UCSC Ensembl
Innerchr10:53827743..53827970hg19UCSC Ensembl
Outerchr10:53827635..53828039hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38405
hg19405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9745040
Samples
Known GenesPRKG1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3546293
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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