A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16424



Internal ID9614141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:47907511..48190842hg38UCSC Ensembl
InnerchrX:47766910..48050278hg19UCSC Ensembl
InnerchrX:47651854..47935222hg18UCSC Ensembl
InnerchrX:47523164..47806532hg17UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38283332
hg19283369
hg18283369
hg17283369
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758568
Supporting Variants
SamplesNA19139
Known GenesSPACA5, SPACA5B, 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)essv16424
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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