A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759803



Internal ID9635262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:8763266..8988026hg38UCSC Ensembl
Innerchr11:8784813..9009573hg19UCSC Ensembl
Innerchr11:8741389..8966149hg18UCSC Ensembl
Innerchr11:8741389..8966149hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38224761
hg19224761
hg18224761
hg17224761
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758256
SamplesNA10856
Known GenesAKIP1, ASCL3, C11orf16, NRIP3, ST5, TMEM9B, TMEM9B-AS1
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)esv2759803
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