A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759099



Internal ID9981244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:155580277..155742915hg38UCSC Ensembl
Innerchr2:156436789..156599427hg19UCSC Ensembl
Innerchr2:156145035..156307673hg18UCSC Ensembl
Innerchr2:156262297..156424935hg17UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38162639
hg19162639
hg18162639
hg17162639
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757839
SamplesNA18521
Known Genes
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)esv2759099
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