A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758568



Internal ID9634027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:47907511..48287275hg38UCSC Ensembl
InnerchrX:47766910..48146710hg19UCSC Ensembl
InnerchrX:47651854..48031654hg18UCSC Ensembl
InnerchrX:47523164..47902964hg17UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38379765
hg19379801
hg18379801
hg17379801
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758866
Supporting Variantsessv5393, essv17330, essv9730, essv16424
SamplesNA18563, NA18856, NA19139, NA18913
Known GenesSPACA5, SPACA5B, SSX1, SSX5, SSX6, ZNF182, ZNF630, ZNF81
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)esv2758568
Frequency
Sample Size270
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer