A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12691



Internal ID9961510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:88829632..88967016hg38UCSC Ensembl
Innerchr11:88562800..88700184hg19UCSC Ensembl
Innerchr11:88202448..88339832hg18UCSC Ensembl
Innerchr11:88202448..88339832hg17UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg38137385
hg19137385
hg18137385
hg17137385
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758280
Supporting Variants
SamplesNA18500
Known GenesGRM5
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)essv12691
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