A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6868556



Internal ID10265182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:43280866..43281467hg38UCSC Ensembl
Outerchr22:43676872..43677473hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724304, esv2724307, esv2724305
Supporting Variants
SamplesSSM089
Known GenesSCUBE1
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)essv6868556
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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