A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3567016



Internal ID18421406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172087602..172087864hg38UCSC Ensembl
Outerchr5:172087548..172087933hg38UCSC Ensembl
Innerchr5:171514606..171514868hg19UCSC Ensembl
Outerchr5:171514552..171514937hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38386
hg19386
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9765763
Samples
Known GenesSTK10
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3567016
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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