A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5395160



Internal ID8718869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:37726138..37726646hg38UCSC Ensembl
Innerchr18:35306101..35306609hg19UCSC Ensembl
Innerchr18:33560099..33560607hg18UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38509
hg19509
hg18509
Variant TypeCNV loss
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2656316
Supporting Variants
Samples2244 [61]
Known Genes
MethodMerging
AnalysisCalls merged from CNV Partition and PennCV algorithms
PlatformMerging
Comments
ReferenceChia_et_al_2012
Pubmed ID23635498
Accession Number(s)essv5395160
Frequency
Sample Size64
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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