A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20086



Internal ID9954535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:116796030..116967384hg38UCSC Ensembl
InnerchrX:115929998..116101352hg19UCSC Ensembl
InnerchrX:115814026..115985380hg18UCSC Ensembl
InnerchrX:115711880..115883234hg17UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38171355
hg19171355
hg18171355
hg17171355
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758585
Supporting Variants
SamplesNA07048
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)essv20086
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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