A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5478



Internal ID9627171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:85493249..85664222hg38UCSC Ensembl
Innerchr8:86405478..86576451hg19UCSC Ensembl
Innerchr8:86592730..86763703hg18UCSC Ensembl
Innerchr8:86592730..86763703hg17UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg38170974
hg19170974
hg18170974
hg17170974
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758162
Supporting Variants
SamplesNA18632
Known GenesREXO1L1, REXO1L2P
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)essv5478
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