A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553392



Internal ID18754468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:47850465..47850592hg38UCSC Ensembl
Outerchr16:47850460..47850601hg38UCSC Ensembl
Innerchr16:47884376..47884503hg19UCSC Ensembl
Outerchr16:47884371..47884512hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752139
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553392
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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