A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553219



Internal ID18754295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21123166..21123277hg38UCSC Ensembl
Outerchr16:21123157..21123281hg38UCSC Ensembl
Innerchr16:21134487..21134598hg19UCSC Ensembl
Outerchr16:21134478..21134602hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9751966
Samples
Known GenesDNAH3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553219
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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