A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24479



Internal ID9957926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:9797880..9990954hg38UCSC Ensembl
Innerchr5:9797992..9991066hg19UCSC Ensembl
Innerchr5:9850992..10044066hg18UCSC Ensembl
Innerchr5:9850992..10044066hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38193075
hg19193075
hg18193075
hg17193075
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757982
Supporting Variants
SamplesNA12056
Known GenesLOC285692
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)essv24479
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