A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715071



Internal ID9949356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88951036..88951312hg38UCSC Ensembl
Outerchr16:89017444..89017720hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6945638, essv6824236
SamplesSSM023, SSM079
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)esv2715071
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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