A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22973



Internal ID9954957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:97680575..97800619hg38UCSC Ensembl
InnerchrX:96935574..97055617hg19UCSC Ensembl
InnerchrX:96822230..96942273hg18UCSC Ensembl
InnerchrX:96741719..96861762hg17UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg38120045
hg19120044
hg18120044
hg17120044
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758578
Supporting Variants
SamplesNA07357
Known Genes
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)essv22973
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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