A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6788973



Internal ID10192992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:49713186..49713570hg38UCSC Ensembl
Outerchr22:50106834..50107218hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38385
hg19385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724699, esv2724698
Supporting Variants
SamplesSSM069
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)essv6788973
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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