A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17325



Internal ID9615142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87289774..87444658hg38UCSC Ensembl
Innerchr2:87516897..87744177hg19UCSC Ensembl
Innerchr2:87370408..87525292hg18UCSC Ensembl
Innerchr2:87428555..87583439hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38154885
hg19227281
hg18154885
hg17154885
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757815
Supporting Variants
SamplesNA18856
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)essv17325
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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