A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758268



Internal ID9633727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:48835425..49163638hg38UCSC Ensembl
Innerchr11:48856977..49185190hg19UCSC Ensembl
Innerchr11:48813553..49141766hg18UCSC Ensembl
Innerchr11:48813553..49141766hg17UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38328214
hg19328214
hg18328214
hg17328214
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759824
Supporting Variantsessv4365, essv24383, essv5268
SamplesNA18573, NA12707, NA18624
Known GenesFOLH1, TRIM49B, TRIM64C
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)esv2758268
Frequency
Sample Size270
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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