A curated catalogue of human genomic structural variation




Variant Details

Variant: essv21142



Internal ID9619384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:1227411..1403633hg38UCSC Ensembl
Innerchr3:1269095..1445317hg19UCSC Ensembl
Innerchr3:1244095..1420317hg18UCSC Ensembl
Innerchr3:1244095..1420317hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38176223
hg19176223
hg18176223
hg17176223
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757854, esv2757855
Supporting Variants
SamplesNA12815
Known GenesCNTN6
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)essv21142
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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