A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7414



Internal ID9629323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:37789992..38062733hg38UCSC Ensembl
Innerchr3:37831483..38104224hg19UCSC Ensembl
Innerchr3:37806487..38079228hg18UCSC Ensembl
Innerchr3:37806487..38079228hg17UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38272742
hg19272742
hg18272742
hg17272742
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757866
Supporting Variants
SamplesNA18623
Known GenesCTDSPL, DLEC1, ITGA9, MIR26A1, PLCD1, VILL
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)essv7414
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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