A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656365



Internal ID8719564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:57272207..57281286hg38UCSC Ensembl
Innerchr18:54939438..54948517hg19UCSC Ensembl
Innerchr18:53090436..53099515hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg389080
hg199080
hg189080
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv24e198
Supporting Variantsessv5395253, essv5395295
Samples2242 [59], 2301 [1]
Known Genes
MethodMerging
AnalysisCalls merged from CNV Partition and PennCV algorithms
PlatformMerging
Comments
ReferenceChia_et_al_2012
Pubmed ID23635498
Accession Number(s)esv2656365
Frequency
Sample Size64
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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