A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758468



Internal ID9633927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3677422..4170252hg38UCSC Ensembl
Innerchr18:3677422..4170252hg19UCSC Ensembl
Innerchr18:3667422..4160252hg18UCSC Ensembl
Innerchr18:3667422..4160252hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38492831
hg19492831
hg18492831
hg17492831
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758710
Supporting Variantsessv18324, essv18063
SamplesNA10846, NA12145
Known GenesDLGAP1, DLGAP1-AS3, DLGAP1-AS4, MIR6718
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)esv2758468
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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