A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553450



Internal ID18754526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:54626463..54626752hg38UCSC Ensembl
Outerchr16:54626399..54626813hg38UCSC Ensembl
Innerchr16:54660375..54660664hg19UCSC Ensembl
Outerchr16:54660311..54660725hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38415
hg19415
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv158e215
Supporting Variantsessv9752197
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553450
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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