A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742642



Internal ID10296758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:32604424..32604645hg38UCSC Ensembl
Outerchr22:33000410..33000631hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6898470
SamplesSSM099
Known GenesSYN3
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)esv2742642
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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