A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758281



Internal ID9633740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:89709870..90197020hg38UCSC Ensembl
Innerchr11:89443038..89930188hg19UCSC Ensembl
Innerchr11:89082686..89569836hg18UCSC Ensembl
Innerchr11:89082686..89569836hg17UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg38487151
hg19487151
hg18487151
hg17487151
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759849
Supporting Variantsessv4388, essv22404
SamplesNA18573, NA10861
Known GenesMIR5692A1, NAALAD2, TRIM49, TRIM49C, TRIM49D1, TRIM49D2P, TRIM53AP, TRIM64, TRIM64B, TRIM77, UBTFL1
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)esv2758281
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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