A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990289



Internal ID6726257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73534747..73555855hg38UCSC Ensembl
Innerchr14:74001451..74022559hg19UCSC Ensembl
Innerchr14:73071204..73092312hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3821109
hg1921109
hg1821109
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586899
SamplesHuRef
Known GenesACOT1, HEATR4
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990289
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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