A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724165



Internal ID3274661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:33673902..33674019hg38UCSC Ensembl
Outerchr22:34069888..34070005hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6858918
SamplesSSM087
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)esv2724165
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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