A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9753148



Internal ID18727394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:39291901..39292501hg38UCSC Ensembl
Outerchr17:39291867..39292523hg38UCSC Ensembl
Innerchr17:37448154..37448754hg19UCSC Ensembl
Outerchr17:37448120..37448776hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38657
hg19657
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3554401
Supporting Variants
Samples
Known GenesFBXL20
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9753148
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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