A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2203



Internal ID9620370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:21149044..21335651hg38UCSC Ensembl
Innerchr5:21149153..21335760hg19UCSC Ensembl
Innerchr5:21184910..21371517hg18UCSC Ensembl
Innerchr5:21184910..21371517hg17UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38186608
hg19186608
hg18186608
hg17186608
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757988
Supporting Variants
SamplesNA18960
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)essv2203
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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