A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3566453



Internal ID18767529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:111359295..111359564hg38UCSC Ensembl
Outerchr5:111359229..111359581hg38UCSC Ensembl
Innerchr5:110694993..110695262hg19UCSC Ensembl
Outerchr5:110694927..110695279hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38353
hg19353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9765200
Samples
Known GenesCAMK4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3566453
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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