A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6375



Internal ID9628168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:135549291..135895831hg38UCSC Ensembl
InnerchrX:134683216..134977990hg19UCSC Ensembl
InnerchrX:134510882..134805656hg18UCSC Ensembl
InnerchrX:134408736..134703510hg17UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38346541
hg19294775
hg18294775
hg17294775
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758593
Supporting Variants
SamplesNA18572
Known GenesCT45A1, CT45A2, CT45A3, CT45A4, CT45A5, CT45A6, DDX26B, SAGE1
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)essv6375
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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