A curated catalogue of human genomic structural variation




Variant Details

Variant: esv991030



Internal ID6726995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:2671228..2675785hg38UCSC Ensembl
Outerchr11:2692458..2697015hg19UCSC Ensembl
Outerchr11:2649034..2653591hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg384558
hg194558
hg184558
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565829
SamplesHuRef
Known GenesKCNQ1, KCNQ1OT1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv991030
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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