A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553913



Internal ID18754989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89781567..89782283hg38UCSC Ensembl
Outerchr16:89781390..89782358hg38UCSC Ensembl
Innerchr16:89847975..89848691hg19UCSC Ensembl
Outerchr16:89847798..89848766hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38969
hg19969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752660
Samples
Known GenesFANCA
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553913
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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