A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17427



Internal ID9615255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195704069..195893011hg38UCSC Ensembl
Innerchr3:195430940..195619882hg19UCSC Ensembl
Innerchr3:196916120..197104279hg18UCSC Ensembl
Innerchr3:196920033..197108192hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38188943
hg19188943
hg18188160
hg17188160
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757913
Supporting Variants
SamplesNA12043
Known GenesMIR6829, MUC20, MUC4, TNK2
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)essv17427
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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