A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11441



Internal ID9608605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4199986..4294902hg38UCSC Ensembl
Innerchr11:4221216..4316132hg19UCSC Ensembl
Innerchr11:4177792..4272708hg18UCSC Ensembl
Innerchr11:4177792..4272708hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3894917
hg1994917
hg1894917
hg1794917
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758253
Supporting Variants
SamplesNA18857
Known GenesLOC100506082
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)essv11441
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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