A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554490



Internal ID18755566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46837170..46839045hg38UCSC Ensembl
Outerchr17:46837108..46839088hg38UCSC Ensembl
Innerchr17:44914536..44916411hg19UCSC Ensembl
Outerchr17:44914474..44916454hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg381981
hg191981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753237
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554490
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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