A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3564200



Internal ID18418590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:87347112..87353062hg38UCSC Ensembl
Outerchr4:87347028..87353323hg38UCSC Ensembl
Innerchr4:88268264..88274214hg19UCSC Ensembl
Outerchr4:88268180..88274475hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg386296
hg196296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9762947
Samples
Known GenesHSD17B11
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3564200
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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