A curated catalogue of human genomic structural variation




Variant Details

Variant: essv21372



Internal ID9619639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191149222..191561318hg38UCSC Ensembl
Innerchr3:190867011..191279107hg19UCSC Ensembl
Innerchr3:192349705..192761801hg18UCSC Ensembl
Innerchr3:192349713..192761809hg17UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38412097
hg19412097
hg18412097
hg17412097
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757910
Supporting Variants
SamplesNA12740
Known GenesCCDC50, OSTN, PYDC2, UTS2B
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)essv21372
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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