A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9764207



Internal ID18738453
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 StatusS
Merged Variantsesv3565460
Supporting Variants
Samples
Known GenesUBE2QL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9764207
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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