A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9750394



Internal ID18377954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63488766..63497282hg38UCSC Ensembl
Outerchr14:63488283..63497925hg38UCSC Ensembl
Innerchr14:63955484..63964000hg19UCSC Ensembl
Outerchr14:63955001..63964643hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg389643
hg199643
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3551647
Supporting Variants
Samples
Known GenesPPP2R5E
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9750394
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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