A curated catalogue of human genomic structural variation




Variant Details

Variant: essv392



Internal ID9625440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:36470072..36899987hg38UCSC Ensembl
Innerchr18:34050035..34479950hg19UCSC Ensembl
Innerchr18:32304033..32733948hg18UCSC Ensembl
Innerchr18:32304033..32733948hg17UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38429916
hg19429916
hg18429916
hg17429916
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758475
Supporting Variants
SamplesNA18971
Known GenesFHOD3, KIAA1328, TPGS2
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)essv392
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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