A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743907



Internal ID10324877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1294520..1295016hg38UCSC Ensembl
Outerchr11:1315750..1316246hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38497
hg19497
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6831119, essv6965467
SamplesSSM027, SSM081
Known GenesTOLLIP
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)esv2743907
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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