A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5395480



Internal ID8718926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:37721964..37726646hg38UCSC Ensembl
Innerchr18:35301927..35306609hg19UCSC Ensembl
Innerchr18:33555925..33560607hg18UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg384683
hg194683
hg184683
Variant TypeCNV loss
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2656357
Supporting Variants
Samples2306 [5]
Known Genes
MethodMerging
AnalysisCalls merged from CNV Partition and PennCV algorithms
PlatformMerging
Comments
ReferenceChia_et_al_2012
Pubmed ID23635498
Accession Number(s)essv5395480
Frequency
Sample Size64
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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