A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759212



Internal ID9634671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:193516111..193685857hg38UCSC Ensembl
Innerchr3:193233900..193403646hg19UCSC Ensembl
Innerchr3:194716594..194886340hg18UCSC Ensembl
Innerchr3:194716602..194886348hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38169747
hg19169747
hg18169747
hg17169747
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757912
SamplesNA10856
Known GenesATP13A4, OPA1, OPA1-AS1
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)esv2759212
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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