A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757853



Internal ID9633312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:29482..756820hg38UCSC Ensembl
Innerchr3:71156..798503hg19UCSC Ensembl
Innerchr3:46156..773503hg18UCSC Ensembl
Innerchr3:46156..773503hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38727339
hg19727348
hg18727348
hg17727348
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759122
Supporting Variantsessv5292, essv20096, essv21030, essv10030, essv14762, essv5528, essv21464, essv17578, essv17562, essv21218, essv19975, essv21860, essv22884, essv23061, essv16397, essv18245, essv15335, essv16980, essv10324, essv19256
SamplesNA12717, NA11830, NA18862, NA12813, NA12812, NA10846, NA07048, NA12762, NA19159, NA12760, NA18529, NA11839, NA10838, NA19099, NA06991, NA19144, NA18506, NA18624, NA19139
Known GenesCHL1
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)esv2757853
Frequency
Sample Size270
Observed Gain18
Observed Loss2
Observed Complex0
Frequencyn/a


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