A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23238



Internal ID9954289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:106294320..106438547hg38UCSC Ensembl
InnerchrX:105537536..105681777hg19UCSC Ensembl
InnerchrX:105424192..105568433hg18UCSC Ensembl
InnerchrX:105343681..105487922hg17UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38144228
hg19144242
hg18144242
hg17144242
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758581
Supporting Variants
SamplesNA07029
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)essv23238
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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