A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1454284



Internal ID12270720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1272819..1273120hg38UCSC Ensembl
chr5:1272934..1273235hg19UCSC Ensembl
chr5:1325934..1326235hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38302
hg19302
hg18302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4236273
SamplesHuRef
Known GenesTERT
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1454284
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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