A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724725



Internal ID10308361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:49944639..49945392hg38UCSC Ensembl
Outerchr22:50338287..50339040hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38754
hg19754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6937514, essv6804311, essv6901498, essv6773311
SamplesSSM100, SSM065, SSM073, SSM021
Known Genes
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)esv2724725
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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