A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758464



Internal ID9633923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:62218196..62395480hg38UCSC Ensembl
Innerchr17:60295557..60472841hg19UCSC Ensembl
Innerchr17:57650339..57826573hg18UCSC Ensembl
Innerchr17:57650339..57826573hg17UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38177285
hg19177285
hg18176235
hg17176235
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758701
Supporting Variantsessv7525, essv2438, essv21249, essv1867, essv5481, essv14428, essv3087, essv9832, essv15815, essv8635, essv13131, essv12382, essv17170, essv12777, essv11016, essv9190, essv10231, essv584, essv10731, essv11135, essv12989, essv2026, essv8246, essv10569, essv15338, essv16128, essv14493, essv15773, essv17230, essv13922, essv9094, essv15639, essv13555, essv7125, essv16302, essv15504, essv10461, essv14270, essv9364, essv16513, essv8821, essv12703, essv1140, essv11915, essv11664, essv18126, essv11268, essv8337, essv16684, essv14127, essv9878, essv9695, essv16988, essv10313, essv12600, essv17050, essv1753, essv21859, essv15135, essv9131
SamplesNA18998, NA18502, NA19204, NA18862, NA18861, NA18508, NA19145, NA18999, NA18545, NA19098, NA18969, NA19171, NA19201, NA18860, NA19131, NA18964, NA18949, NA19238, NA19172, NA19128, NA10855, NA19239, NA11993, NA19210, NA19120, NA19194, NA19152, NA19161, NA18859, NA18515, NA18976, NA18503, NA11839, NA19202, NA18537, NA19142, NA18912, NA19154, NA18853, NA18523, NA19160, NA19132, NA18858, NA18914, NA18632, NA18863, NA18913, NA19240, NA19100, NA19144, NA19143, NA19223, NA19211, NA18506, NA19102, NA18854, NA19116, NA18505, NA19129, NA18997
Known GenesEFCAB3, TBC1D3P2
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)esv2758464
Frequency
Sample Size270
Observed Gain59
Observed Loss1
Observed Complex0
Frequencyn/a


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