A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17340



Internal ID9967232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:77627972..77801525hg38UCSC Ensembl
Innerchr2:77855098..78028651hg19UCSC Ensembl
Innerchr2:77708606..77882159hg18UCSC Ensembl
Innerchr2:77766753..77940306hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38173554
hg19173554
hg18173554
hg17173554
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757810
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)essv17340
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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