A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3565460



Internal ID18766536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6482535..6482597hg38UCSC Ensembl
chr5:6482648..6482710hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9764207
Samples
Known GenesUBE2QL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3565460
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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