A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724205



Internal ID3274701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:36872617..36872706hg38UCSC Ensembl
Outerchr22:37268659..37268748hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6961186, essv6858927
SamplesSSM087, SSM026
Known GenesNCF4
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)esv2724205
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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