A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22658



Internal ID9621067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:135468612..135734271hg38UCSC Ensembl
InnerchrX:134602537..134902704hg19UCSC Ensembl
InnerchrX:134430203..134730370hg18UCSC Ensembl
InnerchrX:134328057..134628224hg17UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38265660
hg19300168
hg18300168
hg17300168
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758593
Supporting Variants
SamplesNA12752
Known GenesCT45A1, CT45A2, CT45A3, CT45A4, DDX26B
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)essv22658
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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