A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743937



Internal ID9978221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1441714..1442008hg38UCSC Ensembl
Outerchr11:1462944..1463238hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6800008, essv6791663
SamplesSSM072, SSM070
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)esv2743937
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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