A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23671



Internal ID9956371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:132389103..132568716hg38UCSC Ensembl
Innerchr8:133401350..133580963hg19UCSC Ensembl
Innerchr8:133470532..133650145hg18UCSC Ensembl
Innerchr8:133470532..133650145hg17UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38179614
hg19179614
hg18179614
hg17179614
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758171
Supporting Variants
SamplesNA10863
Known GenesHPYR1, KCNQ3
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)essv23671
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