A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758572



Internal ID9980649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:64318919..64663397hg38UCSC Ensembl
InnerchrX:63538799..63883277hg19UCSC Ensembl
InnerchrX:63455524..63800002hg18UCSC Ensembl
InnerchrX:63321820..63666298hg17UCSC Ensembl
CytobandXq11.1
Allele length
AssemblyAllele length
hg38344479
hg19344479
hg18344479
hg17344479
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758870
Supporting Variantsessv12363
SamplesNA19138
Known GenesMTMR8
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)esv2758572
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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