A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6941620



Internal ID10049056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50228094..50228516hg38UCSC Ensembl
Outerchr22:50666523..50666945hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38423
hg19423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724760
Supporting Variants
SamplesSSM022
Known GenesTUBGCP6
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)essv6941620
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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