A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724065



Internal ID9958366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23881982..23882346hg38UCSC Ensembl
Outerchr22:24224169..24224533hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38365
hg19365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6913773, essv6725620
SamplesSSM045, SSM015
Known GenesSLC2A11
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)esv2724065
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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