A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15114687



Internal ID5116503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:104019544..104136108hg38UCSC Ensembl
chr14:104485881..104602445hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38116565
hg19116565
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635614
Supporting Variants
SamplesNA06984
Known GenesASPG, MIR203, MIR3545, TDRD9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15114687
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