A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757875



Internal ID9979952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75568444..76028139hg38UCSC Ensembl
Innerchr3:75617595..76077290hg19UCSC Ensembl
Innerchr3:75700285..76159980hg18UCSC Ensembl
Innerchr3:75700285..76159980hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38459696
hg19459696
hg18459696
hg17459696
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759157
Supporting Variantsessv23879, essv18374, essv11090, essv17967, essv13155, essv9074, essv21739, essv18298, essv3989, essv6007, essv8279, essv24747, essv19588, essv15136, essv7286, essv9818, essv19247
SamplesNA18592, NA12814, NA12248, NA10846, NA18571, NA18970, NA12003, NA19103, NA10838, NA12249, NA19132, NA12864, NA18863, NA19211, NA10860, NA19102, NA19129
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)esv2757875
Frequency
Sample Size270
Observed Gain15
Observed Loss2
Observed Complex0
Frequencyn/a


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