A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6946260



Internal ID9703187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:29818234..29818636hg38UCSC Ensembl
Outerchr22:30214223..30214625hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38403
hg19403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724130
Supporting Variants
SamplesSSM023
Known GenesASCC2
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)essv6946260
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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