A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14507



Internal ID9612011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:44676670..45130644hg38UCSC Ensembl
Innerchr15:44968868..45422842hg19UCSC Ensembl
Innerchr15:42756160..43210134hg18UCSC Ensembl
Innerchr15:42756160..43210134hg17UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38453975
hg19453975
hg18453975
hg17453975
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758380
Supporting Variants
SamplesNA19202
Known GenesB2M, C15orf43, DUOX1, DUOX2, DUOXA1, DUOXA2, PATL2, SORD, TRIM69
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)essv14507
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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