A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3544080



Internal ID18745156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:116961419..116963030hg38UCSC Ensembl
Outerchr8:116961386..116963079hg38UCSC Ensembl
Innerchr8:117973658..117975269hg19UCSC Ensembl
Outerchr8:117973625..117975318hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg381694
hg191694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742827
Samples
Known GenesSLC30A8
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3544080
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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