A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5399



Internal ID9627083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14827333..15008646hg38UCSC Ensembl
Innerchr18:14827332..15008645hg19UCSC Ensembl
Innerchr18:14817332..14998645hg18UCSC Ensembl
Innerchr18:14817332..14998645hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38181314
hg19181314
hg18181314
hg17181314
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758472
Supporting Variants
SamplesNA18563
Known GenesANKRD30B, LOC400644, MIR3156-2
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)essv5399
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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