A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3147



Internal ID9624582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148789781..148982242hg38UCSC Ensembl
Innerchr1:144902232..145098718hg19UCSC Ensembl
Innerchr1:143613589..143810075hg18UCSC Ensembl
Innerchr1:142391276..142587762hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38192462
hg19196487
hg18196487
hg17196487
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757751
Supporting Variants
SamplesNA19012
Known GenesLOC100288142, NBPF12, NBPF9, PDE4DIP, SEC22B
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)essv3147
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