A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715069



Internal ID9949354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88950077..88950563hg38UCSC Ensembl
Outerchr16:89016485..89016971hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38487
hg19487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6728892
SamplesSSM046
Known GenesCBFA2T3
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2715069
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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