A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564347



Internal ID7035447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:67088068..67088581hg38UCSC Ensembl
Outerchr16:67121971..67122484hg19UCSC Ensembl
Outerchr16:65679472..65679985hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg386892
hg196892
hg186892
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv988966
Supporting Variants
SamplesHuRef
Known GenesCBFB
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564347
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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