A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553505



Internal ID18754581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:58912216..58920096hg38UCSC Ensembl
Outerchr16:58911597..58920596hg38UCSC Ensembl
Innerchr16:58946120..58954000hg19UCSC Ensembl
Outerchr16:58945501..58954500hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg389000
hg199000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752252
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553505
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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