A curated catalogue of human genomic structural variation




Variant Details

Variant: essv21710



Internal ID9620015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:141506199..141687328hg38UCSC Ensembl
InnerchrX:140594202..140775489hg19UCSC Ensembl
InnerchrX:140421868..140603155hg18UCSC Ensembl
InnerchrX:140319722..140501009hg17UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg38181130
hg19181288
hg18181288
hg17181288
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758594
Supporting Variants
SamplesNA12248
Known GenesSPANXA1, SPANXA2, SPANXA2-OT1
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)essv21710
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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