A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723953



Internal ID9958253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17658929..17661928hg38UCSC Ensembl
Outerchr22:18141695..18144694hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6666596, essv6915263
SamplesSSM029, SSM002
Known GenesBCL2L13
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)esv2723953
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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