A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759819



Internal ID9635278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:35297773..35458974hg38UCSC Ensembl
Innerchr11:35319320..35480522hg19UCSC Ensembl
Innerchr11:35275896..35437098hg18UCSC Ensembl
Innerchr11:35275896..35437098hg17UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38161202
hg19161203
hg18161203
hg17161203
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758264
SamplesNA19160
Known GenesPAMR1, SLC1A2
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)esv2759819
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