A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3566695



Internal ID18767771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:137686889..137688115hg38UCSC Ensembl
Outerchr5:137686760..137688262hg38UCSC Ensembl
Innerchr5:137022578..137023804hg19UCSC Ensembl
Outerchr5:137022449..137023951hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381503
hg191503
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9765442
Samples
Known GenesKLHL3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3566695
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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