A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553451



Internal ID18754527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:54626514..54626753hg38UCSC Ensembl
Outerchr16:54626451..54626784hg38UCSC Ensembl
Innerchr16:54660426..54660665hg19UCSC Ensembl
Outerchr16:54660363..54660696hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv158e215
Supporting Variantsessv9752198
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553451
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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