A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1187842



Internal ID1432024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:60932141..60932141hg19UCSC Ensembl
chr18:59083121..59083121hg18UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg19104
hg18104
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3656441
SamplesHuRef
Known GenesBCL2
Method
AnalysisRegion identical to calls - DGVa curated
PlatformSanger Sequencing
Comments
ReferenceLevy et al 2007
Pubmed ID17803354
Accession Number(s)esv1187842
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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