A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15107091



Internal ID5108907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:99660725..99718739hg38UCSC Ensembl
chr14:100127062..100185076hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3858015
hg1958015
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635488
Supporting Variants
SamplesNA06984
Known GenesCYP46A1, HHIPL1, MIR5698
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15107091
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