A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5395513



Internal ID8719234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:41282183..41293868hg38UCSC Ensembl
Innerchr18:38862147..38873832hg19UCSC Ensembl
Innerchr18:37116145..37127830hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3811686
hg1911686
hg1811686
Variant TypeCNV loss
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2656187
Supporting Variants
Samples2377 [55]
Known Genes
MethodMerging
AnalysisCalls merged from CNV Partition and PennCV algorithms
PlatformMerging
Comments
ReferenceChia_et_al_2012
Pubmed ID23635498
Accession Number(s)essv5395513
Frequency
Sample Size64
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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