A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758891



Internal ID9981036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:126480897..126539826hg38UCSC Ensembl
InnerchrX:125614880..125673809hg19UCSC Ensembl
InnerchrX:125442561..125501490hg18UCSC Ensembl
InnerchrX:125340415..125399344hg17UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3858930
hg1958930
hg1858930
hg1758930
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758589
SamplesNA19128
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)esv2758891
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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