A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758588



Internal ID9634047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:123830966..124028715hg38UCSC Ensembl
InnerchrX:122964816..123162565hg19UCSC Ensembl
InnerchrX:122792497..122990246hg18UCSC Ensembl
InnerchrX:122690351..122888100hg17UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38197750
hg19197750
hg18197750
hg17197750
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758890
Supporting Variantsessv5469
SamplesNA18632
Known GenesSTAG2, XIAP
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)esv2758588
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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