A curated catalogue of human genomic structural variation




Variant Details

Variant: esv30006



Internal ID12954886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73555361..73577871hg38UCSC Ensembl
Innerchr14:74022065..74044575hg19UCSC Ensembl
Innerchr14:73091818..73114328hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3822511
hg1922511
hg1822511
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv84245
SamplesHuRef
Known GenesACOT2, HEATR4
MethodMerging
AnalysisNo Reference, merging experiment
PlatformNot Reported
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv30006
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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