A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3001



Internal ID9624421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:11924989..12709792hg38UCSC Ensembl
Innerchr8:11782498..12567301hg19UCSC Ensembl
Innerchr8:11819907..12611672hg18UCSC Ensembl
Innerchr8:11819907..12611672hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38784804
hg19784804
hg18791766
hg17791766
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758148
Supporting Variants
SamplesNA18981
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)essv3001
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