A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18638



Internal ID9958642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:86808156..86973229hg38UCSC Ensembl
Innerchr16:86841762..87006835hg19UCSC Ensembl
Innerchr16:85399263..85564336hg18UCSC Ensembl
Innerchr16:85399263..85564336hg17UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38165074
hg19165074
hg18165074
hg17165074
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758434
Supporting Variants
SamplesNA12234
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)essv18638
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer