A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744012



Internal ID9978296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:2837635..2838121hg38UCSC Ensembl
Outerchr11:2858865..2859351hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38487
hg19487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6783379
SamplesSSM068
Known GenesKCNQ1
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)esv2744012
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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