A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759201



Internal ID9981346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:168571226..168785322hg38UCSC Ensembl
Innerchr3:168289014..168503110hg19UCSC Ensembl
Innerchr3:169771708..169985804hg18UCSC Ensembl
Innerchr3:169771716..169985812hg17UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38214097
hg19214097
hg18214097
hg17214097
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757904
SamplesNA18608
Known GenesEGFEM1P
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)esv2759201
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