A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757874



Internal ID9633333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75297008..75568444hg38UCSC Ensembl
Innerchr3:75346159..75617595hg19UCSC Ensembl
Innerchr3:75428849..75700285hg18UCSC Ensembl
Innerchr3:75428849..75700285hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38271437
hg19271437
hg18271437
hg17271437
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759157
Supporting Variantsessv23879, essv18374, essv17967, essv13155, essv9074, essv21739, essv18298, essv3989, essv8279, essv24747, essv19588, essv15136, essv19247
SamplesNA12814, NA12248, NA10846, NA18970, NA12003, NA19103, NA10838, NA12249, NA19132, NA12864, NA10860, NA19102, NA19129
Known GenesFAM86DP
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)esv2757874
Frequency
Sample Size270
Observed Gain12
Observed Loss1
Observed Complex0
Frequencyn/a


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