A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17026



Internal ID9614810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4034715..4421809hg38UCSC Ensembl
Innerchr11:4055945..4443039hg19UCSC Ensembl
Innerchr11:4012521..4399615hg18UCSC Ensembl
Innerchr11:4012521..4399615hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38387095
hg19387095
hg18387095
hg17387095
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758253
Supporting Variants
SamplesNA19144
Known GenesLOC100506082, OR52B4, RRM1, STIM1, TRIM21
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)essv17026
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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