A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19100



Internal ID9954576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:86746785..86935496hg38UCSC Ensembl
Innerchr6:87456503..87645214hg19UCSC Ensembl
Innerchr6:87513222..87701933hg18UCSC Ensembl
Innerchr6:87513222..87701933hg17UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg38188712
hg19188712
hg18188712
hg17188712
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758066
Supporting Variants
SamplesNA07055
Known Genes
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)essv19100
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