A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19588



Internal ID9617655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75297008..75570096hg38UCSC Ensembl
Innerchr3:75346159..75619247hg19UCSC Ensembl
Innerchr3:75428849..75701937hg18UCSC Ensembl
Innerchr3:75428849..75701937hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38273089
hg19273089
hg18273089
hg17273089
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757874, esv2757875
Supporting Variants
SamplesNA12864
Known GenesFAM86DP
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)essv19588
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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