A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14432



Internal ID9977132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:84504330..84656418hg38UCSC Ensembl
Innerchr2:84731454..84883542hg19UCSC Ensembl
Innerchr2:84584965..84737053hg18UCSC Ensembl
Innerchr2:84643112..84795200hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38152089
hg19152089
hg18152089
hg17152089
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757814
Supporting Variants
SamplesNA19201
Known GenesDNAH6
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)essv14432
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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