A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743912



Internal ID9978196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1394586..1394916hg38UCSC Ensembl
Outerchr11:1415816..1416146hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6728147, essv6795835
SamplesSSM071, SSM046
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)esv2743912
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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