A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724707



Internal ID9959009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:49802015..49802909hg38UCSC Ensembl
Outerchr22:50195663..50196557hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38895
hg19895
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6898504, essv6725684, essv6761771, essv6836019
SamplesSSM082, SSM061, SSM099, SSM045
Known GenesBRD1
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)esv2724707
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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