A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3388



Internal ID9624849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14087068..14261362hg38UCSC Ensembl
Innerchr18:14087067..14261361hg19UCSC Ensembl
Innerchr18:14077067..14251361hg18UCSC Ensembl
Innerchr18:14077067..14251361hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38174295
hg19174295
hg18174295
hg17174295
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758472
Supporting Variants
SamplesNA18945
Known GenesANKRD20A5P, ZNF519
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)essv3388
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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