A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3565592



Internal ID18419982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17342730..17353523hg38UCSC Ensembl
Outerchr5:17340163..17356502hg38UCSC Ensembl
Innerchr5:17342839..17353632hg19UCSC Ensembl
Outerchr5:17340272..17356611hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3816340
hg1916340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv350e215
Supporting Variantsessv9764339
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3565592
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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