A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758562



Internal ID9634021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:7283357..7705841hg38UCSC Ensembl
InnerchrX:7201398..7623882hg19UCSC Ensembl
InnerchrX:7211398..7633882hg18UCSC Ensembl
InnerchrX:7061134..7483618hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38422485
hg19422485
hg18422485
hg17422485
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758858
Supporting Variantsessv21707
SamplesNA12248
Known GenesSTS
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)esv2758562
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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