A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13756



Internal ID9611176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:11778967..12590982hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38805054
hg19805054
hg18812016
hg17812016
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758148
Supporting Variants
SamplesNA19153
Known GenesDEFB109P1, DEFB130, DEFB134, DEFB135, DEFB136, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, LOC729732, USP17L2, USP17L7, ZNF705D
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)essv13756
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