A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724161



Internal ID9958462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:33384369..33387372hg38UCSC Ensembl
Outerchr22:33780355..33783358hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg383004
hg193004
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6756422, essv6901466, essv6766427
SamplesSSM100, SSM063, SSM058
Known GenesLARGE
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)esv2724161
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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