A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758578



Internal ID9980655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:97680575..97800619hg38UCSC Ensembl
InnerchrX:96935574..97055617hg19UCSC Ensembl
InnerchrX:96822230..96942273hg18UCSC Ensembl
InnerchrX:96741719..96861762hg17UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg38120045
hg19120044
hg18120044
hg17120044
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758879
Supporting Variantsessv4263, essv22973
SamplesNA18603, NA07357
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)esv2758578
Frequency
Sample Size270
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer