A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6672853



Internal ID9743905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:2299804..2299855hg38UCSC Ensembl
Outerchr11:2321034..2321085hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744000, esv2744001
Supporting Variants
SamplesSSM031
Known GenesC11orf21
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)essv6672853
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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