A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6897543



Internal ID9665843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1412046..1412435hg38UCSC Ensembl
Outerchr11:1433276..1433665hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38390
hg19390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743878, esv2743923, esv2743918, esv2743925
Supporting Variants
SamplesSSM012
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)essv6897543
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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