A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18374



Internal ID9616307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75566793..75924423hg38UCSC Ensembl
Innerchr3:75615944..75973574hg19UCSC Ensembl
Innerchr3:75698634..76056264hg18UCSC Ensembl
Innerchr3:75698634..76056264hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38357631
hg19357631
hg18357631
hg17357631
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757874, esv2757875
Supporting Variants
SamplesNA12249
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)essv18374
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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