A curated catalogue of human genomic structural variation




Variant Details

Variant: essv21739



Internal ID9620046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75566792..76029141hg38UCSC Ensembl
Innerchr3:75615943..76078292hg19UCSC Ensembl
Innerchr3:75698633..76160982hg18UCSC Ensembl
Innerchr3:75698633..76160982hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38462350
hg19462350
hg18462350
hg17462350
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757874, esv2757875, esv2757876
Supporting Variants
SamplesNA12248
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)essv21739
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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