A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757902



Internal ID9979979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:162753261..163025006hg38UCSC Ensembl
Innerchr3:162471049..162742794hg19UCSC Ensembl
Innerchr3:163953743..164225488hg18UCSC Ensembl
Innerchr3:163953751..164225496hg17UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg38271746
hg19271746
hg18271746
hg17271746
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759197
Supporting Variantsessv22832, essv21676, essv21231, essv9046, essv14360, essv21974, essv17516, essv22157, essv9626, essv9163, essv9363, essv18268, essv13850, essv21453, essv21851, essv20221, essv20102, essv20765, essv21269, essv21545, essv23799, essv17799, essv11508, essv6838, essv24711, essv22212, essv24411, essv17167, essv18124, essv24277, essv23441, essv24084, essv15099, essv17615, essv19641, essv15674, essv24745
SamplesNA19141, NA12717, NA11830, NA11995, NA11829, NA12004, NA12248, NA12146, NA10857, NA12155, NA19171, NA10846, NA10854, NA07048, NA12762, NA12044, NA19128, NA10855, NA11993, NA19194, NA12753, NA10831, NA18579, NA11839, NA18912, NA18853, NA12707, NA12144, NA19132, NA10856, NA10859, NA12873, NA12763, NA19173, NA10860, NA18854, NA19129
Known Genes
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)esv2757902
Frequency
Sample Size270
Observed Gain36
Observed Loss1
Observed Complex0
Frequencyn/a


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