A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724708



Internal ID9959010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:49802404..49802652hg38UCSC Ensembl
Outerchr22:50196052..50196300hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6836019, essv6898504, essv6725684
SamplesSSM045, SSM082, SSM099
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)esv2724708
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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