A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744274



Internal ID10325244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:26289491..26289743hg38UCSC Ensembl
Outerchr11:26311038..26311290hg19UCSC Ensembl
Cytoband11p14.2
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6712845, essv6672894
SamplesSSM042, SSM031
Known Genes
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)esv2744274
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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