A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553541



Internal ID18407931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:61660559..61663838hg38UCSC Ensembl
Outerchr16:61660238..61663869hg38UCSC Ensembl
Innerchr16:61694463..61697742hg19UCSC Ensembl
Outerchr16:61694142..61697773hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg383632
hg193632
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752288
Samples
Known GenesCDH8
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553541
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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