A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3555318



Internal ID18409708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:46194752..46198534hg38UCSC Ensembl
Outerchr18:46194535..46199034hg38UCSC Ensembl
Innerchr18:43774718..43778500hg19UCSC Ensembl
Outerchr18:43774501..43779000hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg384500
hg194500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9754065
Samples
Known GenesC18orf25
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3555318
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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