A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18424



Internal ID9616363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195652612..195862829hg38UCSC Ensembl
Innerchr3:195379483..195589700hg19UCSC Ensembl
Innerchr3:196864664..197074097hg18UCSC Ensembl
Innerchr3:196868577..197078010hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38210218
hg19210218
hg18209434
hg17209434
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757913
Supporting Variants
SamplesNA12249
Known GenesMIR570, MUC20, MUC4, SDHAP2
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)essv18424
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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