A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18298



Internal ID9616222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75566792..75753565hg38UCSC Ensembl
Innerchr3:75615943..75802716hg19UCSC Ensembl
Innerchr3:75698633..75885406hg18UCSC Ensembl
Innerchr3:75698633..75885406hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38186774
hg19186774
hg18186774
hg17186774
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757874, esv2757875
Supporting Variants
SamplesNA10846
Known GenesFLJ20518, FRG2C, LINC00960, MIR1324, MIR4273, ZNF717
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)essv18298
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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