A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6752460



Internal ID9813694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:44929938..44930450hg38UCSC Ensembl
Outerchr11:44951489..44952001hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38513
hg19513
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744420
Supporting Variants
SamplesSSM057
Known GenesTSPAN18
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)essv6752460
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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