A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16318



Internal ID9976865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:189487893..189768568hg38UCSC Ensembl
Innerchr4:190409047..190689722hg19UCSC Ensembl
Innerchr4:190646041..190926716hg18UCSC Ensembl
Innerchr4:190784196..191064871hg17UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38280676
hg19280676
hg18280676
hg17280676
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757976
Supporting Variants
SamplesNA19193
Known Genes
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)essv16318
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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