A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14292692



Internal ID1906211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117328501..117348849hg38UCSC Ensembl
chr11:117199217..117219565hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3820349
hg1920349
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627850
Supporting Variants
SamplesHG01789
Known GenesCEP164
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14292692
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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