A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24688



Internal ID2936990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:135720375..136072582hg38UCSC Ensembl
InnerchrX:134862075..135154741hg19UCSC Ensembl
InnerchrX:134689741..134982407hg18UCSC Ensembl
InnerchrX:134587595..134880261hg17UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38352208
hg19292667
hg18292667
hg17292667
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758593
Supporting Variants
SamplesNA11829
Known GenesCT45A2, CT45A3, CT45A4, CT45A5, CT45A6, MMGT1, SAGE1, SLC9A6
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)essv24688
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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