A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23147



Internal ID9621611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197128182..197316896hg38UCSC Ensembl
Innerchr3:196855053..197043767hg19UCSC Ensembl
Innerchr3:198339450..198528164hg18UCSC Ensembl
Innerchr3:198343363..198532077hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38188715
hg19188715
hg18188715
hg17188715
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757914
Supporting Variants
SamplesNA12891
Known GenesDLG1, DLG1-AS1, MIR4797
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)essv23147
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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