A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6950382



Internal ID10053964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50189569..50189962hg38UCSC Ensembl
Outerchr22:50627998..50628391hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38394
hg19394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724756, esv2724755
Supporting Variants
SamplesSSM024
Known GenesTRABD
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)essv6950382
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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