A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759217



Internal ID9634676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:609419..937566hg38UCSC Ensembl
Innerchr4:603208..931354hg19UCSC Ensembl
Innerchr4:593208..921354hg18UCSC Ensembl
Innerchr4:593208..921184hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38328148
hg19328147
hg18328147
hg17327977
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757916
SamplesNA19005
Known GenesATP5I, CPLX1, GAK, LOC100129917, MFSD7, MYL5, PCGF3, PDE6B, TMEM175
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)esv2759217
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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