A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18215



Internal ID9616131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29543869..29637215hg38UCSC Ensembl
Innerchr6:29511646..29604992hg19UCSC Ensembl
Innerchr6:29619625..29712971hg18UCSC Ensembl
Innerchr6:29619625..29712971hg17UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3893347
hg1993347
hg1893347
hg1793347
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758039
Supporting Variants
SamplesNA12057
Known GenesGABBR1, OR2H2, SNORD32B, UBD
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)essv18215
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