A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14070111



Internal ID4071927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:26964078..27108838hg38UCSC Ensembl
chr11:26985625..27130385hg19UCSC Ensembl
Cytoband11p14.2
Allele length
AssemblyAllele length
hg38144761
hg19144761
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625760
Supporting Variants
SamplesHG03235
Known GenesBBOX1, FIBIN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14070111
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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