A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9625



Internal ID9631779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:141554559..141745811hg38UCSC Ensembl
InnerchrX:140642627..140834012hg19UCSC Ensembl
InnerchrX:140470293..140661678hg18UCSC Ensembl
InnerchrX:140368147..140559532hg17UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg38191253
hg19191386
hg18191386
hg17191386
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758594
Supporting Variants
SamplesNA19141
Known GenesSPANXA1, SPANXA2, SPANXA2-OT1, SPANXD, SPANXE
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)essv9625
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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