A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6724308



Internal ID9788674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1432944..1433133hg38UCSC Ensembl
Outerchr11:1454174..1454363hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743933, esv2743878
Supporting Variants
SamplesSSM045
Known GenesBRSK2
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)essv6724308
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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