A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17188



Internal ID9976467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:225217249..225339076hg38UCSC Ensembl
Innerchr1:225404951..225526778hg19UCSC Ensembl
Innerchr1:223471574..223593401hg18UCSC Ensembl
Innerchr1:221711686..221833513hg17UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38121828
hg19121828
hg18121828
hg17121828
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757774
Supporting Variants
SamplesNA19171
Known GenesDNAH14
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)essv17188
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