A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004234



Internal ID6712111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:2641864..2642970hg38UCSC Ensembl
Outerchr11:2663094..2664200hg19UCSC Ensembl
Outerchr11:2619670..2620776hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg382460
hg192460
hg182460
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564009
SamplesHuRef
Known GenesKCNQ1, KCNQ1OT1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004234
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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