A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758877



Internal ID9981022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:90199517..90612632hg38UCSC Ensembl
InnerchrX:89454516..89867631hg19UCSC Ensembl
InnerchrX:89341172..89754287hg18UCSC Ensembl
InnerchrX:89260661..89673776hg17UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg38413116
hg19413116
hg18413116
hg17413116
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758576
SamplesNA18966
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)esv2758877
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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