A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14470



Internal ID9611970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:24009191..24655767hg38UCSC Ensembl
Innerchr15:24254338..24900914hg19UCSC Ensembl
Innerchr15:21805431..22452007hg18UCSC Ensembl
Innerchr15:21805431..22452007hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38646577
hg19646577
hg18646577
hg17646577
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758371
Supporting Variants
SamplesNA19201
Known GenesPWRN1, PWRN2
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)essv14470
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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