A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724721



Internal ID9959023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:49908334..49908889hg38UCSC Ensembl
Outerchr22:50301982..50302537hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38556
hg19556
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6874600, essv6948973, essv6915841
SamplesSSM091, SSM003, SSM002
Known GenesALG12
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)esv2724721
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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