A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1667239



Internal ID1354007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:133251434..133251491hg19UCSC Ensembl
chr12:131761507..131761564hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg1958
hg1858
Variant TypeCNV Deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4291685
SamplesHuRef
Known GenesPOLE
Method
AnalysisRegion identical to calls - DGVa curated
PlatformSanger Sequencing
Comments
ReferenceLevy et al 2007
Pubmed ID17803354
Accession Number(s)esv1667239
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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