A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6898504



Internal ID9943985
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 StatusS
Merged Variantsesv2724708, esv2724707
Supporting Variants
SamplesSSM099
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)essv6898504
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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