A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9164



Internal ID9631267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4199986..4421809hg38UCSC Ensembl
Innerchr11:4221216..4443039hg19UCSC Ensembl
Innerchr11:4177792..4399615hg18UCSC Ensembl
Innerchr11:4177792..4399615hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38221824
hg19221824
hg18221824
hg17221824
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758253
Supporting Variants
SamplesNA19128
Known GenesLOC100506082, OR52B4, 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)essv9164
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer