A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656187



Internal ID8719399
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv15e198
Supporting Variantsessv5395397, essv5395513
Samples2377 [55], 2242 [59]
Known Genes
MethodMerging
AnalysisCalls merged from CNV Partition and PennCV algorithms
PlatformMerging
Comments
ReferenceChia_et_al_2012
Pubmed ID23635498
Accession Number(s)esv2656187
Frequency
Sample Size64
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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