A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758573



Internal ID9634032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:67279827..67580091hg38UCSC Ensembl
InnerchrX:66499669..66799933hg19UCSC Ensembl
InnerchrX:66416394..66716658hg18UCSC Ensembl
InnerchrX:66282690..66582954hg17UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg38300265
hg19300265
hg18300265
hg17300265
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758871
Supporting Variantsessv22087
SamplesNA12154
Known GenesAR
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)esv2758573
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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