A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3566483



Internal ID18767559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:114123362..114123653hg38UCSC Ensembl
Outerchr5:114123303..114123712hg38UCSC Ensembl
Innerchr5:113459059..113459350hg19UCSC Ensembl
Outerchr5:113459000..113459409hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38410
hg19410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9765230
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3566483
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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