A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724204



Internal ID3274700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:36872616..36872744hg38UCSC Ensembl
Outerchr22:37268658..37268786hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6961186, essv6839784, essv6858927
SamplesSSM083, SSM087, 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)esv2724204
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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