A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5395342



Internal ID8718983
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 Number0
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2656382
Supporting Variants
Samples2315 [14]
Known Genes
MethodMerging
AnalysisCalls merged from CNV Partition and PennCV algorithms
PlatformMerging
Comments
ReferenceChia_et_al_2012
Pubmed ID23635498
Accession Number(s)essv5395342
Frequency
Sample Size64
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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