A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3552994



Internal ID18407384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1450699..1450922hg38UCSC Ensembl
Outerchr16:1450671..1450949hg38UCSC Ensembl
Innerchr16:1500700..1500923hg19UCSC Ensembl
Outerchr16:1500672..1500950hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9751741
Samples
Known GenesCLCN7
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3552994
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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