A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656221



Internal ID8719432
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9e198
Supporting Variantsessv5395262, essv5395362
Samples2326 [24], 2313 [12]
Known GenesCHST9
MethodMerging
AnalysisCalls merged from CNV Partition and PennCV algorithms
PlatformMerging
Comments
ReferenceChia_et_al_2012
Pubmed ID23635498
Accession Number(s)esv2656221
Frequency
Sample Size64
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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