A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14070110



Internal ID4071926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:26962165..27229739hg38UCSC Ensembl
chr11:26983712..27251286hg19UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg38267575
hg19267575
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625759
Supporting Variants
SamplesHG03235
Known GenesBBOX1, FIBIN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14070110
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer