A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5395386



Internal ID8719121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:26991280..26992226hg38UCSC Ensembl
Innerchr18:24571244..24572190hg19UCSC Ensembl
Innerchr18:22825242..22826188hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38947
hg19947
hg18947
Variant TypeCNV loss
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2656402
Supporting Variants
Samples2343 [38]
Known GenesCHST9
MethodMerging
AnalysisCalls merged from CNV Partition and PennCV algorithms
PlatformMerging
Comments
ReferenceChia_et_al_2012
Pubmed ID23635498
Accession Number(s)essv5395386
Frequency
Sample Size64
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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