A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5519



Internal ID9627217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14243253..14972123hg38UCSC Ensembl
Innerchr18:14243252..14972122hg19UCSC Ensembl
Innerchr18:14233252..14962122hg18UCSC Ensembl
Innerchr18:14233252..14962122hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38728871
hg19728871
hg18728871
hg17728871
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758472
Supporting Variants
SamplesNA18529
Known GenesANKRD30B, CXADRP3, CYP4F35P, LOC400644, MIR3156-2, POTEC
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)essv5519
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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