A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553142



Internal ID18407532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:13200684..13202443hg38UCSC Ensembl
Outerchr16:13200442..13202860hg38UCSC Ensembl
Innerchr16:13294541..13296300hg19UCSC Ensembl
Outerchr16:13294299..13296717hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg382419
hg192419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9751889
Samples
Known GenesSHISA9
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553142
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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