A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758884



Internal ID9634343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:110338543..110468253hg38UCSC Ensembl
InnerchrX:109581771..109711481hg19UCSC Ensembl
InnerchrX:109468427..109598137hg18UCSC Ensembl
InnerchrX:109387916..109517626hg17UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38129711
hg19129711
hg18129711
hg17129711
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758583
SamplesNA18561
Known GenesAMMECR1, RGAG1
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)esv2758884
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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