A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8938



Internal ID9631015
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 gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757914
Supporting Variants
SamplesNA19200
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)essv8938
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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