A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3583404



Internal ID7054786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:116687996..116687996hg38UCSC Ensembl
chr11:116558712..116558712hg19UCSC Ensembl
chr11:116063922..116063922hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv989766
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3583404
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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