A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3566878



Internal ID18767954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:159165399..159165727hg38UCSC Ensembl
Outerchr5:159165341..159165779hg38UCSC Ensembl
Innerchr5:158592407..158592735hg19UCSC Ensembl
Outerchr5:158592349..158592787hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38439
hg19439
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9765625
Samples
Known GenesRNF145
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3566878
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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