A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759000



Internal ID9634459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:223747518..224175461hg38UCSC Ensembl
Innerchr1:223935220..224363163hg19UCSC Ensembl
Innerchr1:222001843..222429786hg18UCSC Ensembl
Innerchr1:220241955..220669898hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38427944
hg19427944
hg18427944
hg17427944
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757772
SamplesNA12865, NA18547, NA18949, NA18572, NA11840, NA18971
Known GenesCAPN2, FBXO28, TP53BP2
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)esv2759000
Frequency
Sample Size270
Observed Gain1
Observed Loss5
Observed Complex0
Frequencyn/a


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