A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17594



Internal ID9959992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:126275440..126403517hg38UCSC Ensembl
Innerchr2:127033017..127161094hg19UCSC Ensembl
Innerchr2:126749487..126877564hg18UCSC Ensembl
Innerchr2:126749247..126877324hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38128078
hg19128078
hg18128078
hg17128078
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757831
Supporting Variants
SamplesNA12762
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)essv17594
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