A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9763934



Internal ID18738180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:185520481..185522447hg38UCSC Ensembl
Outerchr4:185520378..185522949hg38UCSC Ensembl
Innerchr4:186441635..186443601hg19UCSC Ensembl
Outerchr4:186441532..186444103hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg382572
hg192572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3565187
Supporting Variants
Samples
Known GenesPDLIM3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9763934
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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