A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2059



Internal ID9618769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:223747518..224081993hg38UCSC Ensembl
Innerchr1:223935220..224269695hg19UCSC Ensembl
Innerchr1:222001843..222336318hg18UCSC Ensembl
Innerchr1:220241955..220576430hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38334476
hg19334476
hg18334476
hg17334476
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757772
Supporting Variants
SamplesNA18949
Known GenesCAPN2, 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)essv2059
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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