A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758373



Internal ID9980450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:28167321..28719643hg38UCSC Ensembl
Innerchr15:28412467..28964789hg19UCSC Ensembl
Innerchr15:26086062..26763830hg18UCSC Ensembl
Innerchr15:26086062..26763830hg17UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg38552323
hg19552323
hg18677769
hg17677769
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2760021
Supporting Variantsessv24654, essv24251, essv7325, essv81, essv10524, essv19661, essv23036, essv3057, essv16711, essv15469, essv10643, essv8153, essv14187, essv4784, essv16735, essv11128, essv21423, essv18742, essv10294, essv13592, essv2220, essv21172, essv16045, essv20184, essv12336, essv20558, essv13669, essv20665, essv21560, essv14482, essv21286, essv4372, essv1829, essv17120, essv1011, essv10834, essv23344
SamplesNA12717, NA11830, NA11829, NA18855, NA12750, NA19127, NA19171, NA19005, NA12812, NA19119, NA18960, NA19138, NA10855, NA18991, NA18871, NA18976, NA18981, NA19202, NA18573, NA19142, NA12892, NA12264, NA10856, NA18570, NA19206, NA19140, NA19240, NA12873, NA12874, NA18501, NA19211, NA18506, NA18872, NA07056, NA18505, NA11832, NA18620
Known GenesGOLGA8F, GOLGA8G, GOLGA8M, HERC2, HERC2P9, MIR4509-1, MIR4509-2, MIR4509-3
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)esv2758373
Frequency
Sample Size270
Observed Gain10
Observed Loss27
Observed Complex0
Frequencyn/a


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