A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17562



Internal ID9615405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:441992..756820hg38UCSC Ensembl
Innerchr3:483675..798503hg19UCSC Ensembl
Innerchr3:458675..773503hg18UCSC Ensembl
Innerchr3:458675..773503hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38314829
hg19314829
hg18314829
hg17314829
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757853
Supporting Variants
SamplesNA12762
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)essv17562
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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