A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2294



Internal ID9621380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:1703008..3276324hg38UCSC Ensembl
InnerchrX:1821901..3194365hg19UCSC Ensembl
InnerchrX:1781901..3204365hg18UCSC Ensembl
InnerchrX:1865728..3187726hg17UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg381573317
hg191372465
hg181422465
hg171321999
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758561
Supporting Variants
SamplesNA18966
Known GenesARSD, ARSE, ARSF, ARSH, CD99, CD99P1, CXorf28, DHRSX, GYG2, LINC00102, MIR6089-1, MIR6089-2, XG, XGPY2, ZBED1
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)essv2294
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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