A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553488



Internal ID18407878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:58170120..58172088hg38UCSC Ensembl
Outerchr16:58170080..58172239hg38UCSC Ensembl
Innerchr16:58204024..58205992hg19UCSC Ensembl
Outerchr16:58203984..58206143hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg382160
hg192160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752235
Samples
Known GenesCSNK2A2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553488
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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