A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758374



Internal ID9633833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30000741..30860288hg38UCSC Ensembl
Innerchr15:30292944..31152491hg19UCSC Ensembl
Innerchr15:28080236..28939783hg18UCSC Ensembl
Innerchr15:28080236..28939783hg17UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg38859548
hg19859548
hg18859548
hg17859548
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2760022
Supporting Variantsessv9464, essv21212, essv12305, essv19107, essv15091, essv894, essv13763, essv8229, essv2995, essv2162, essv11708, essv14189, essv16239, essv17670, essv23197, essv7748, essv1348, essv24581, essv9995, essv20956, essv17780, essv13699, essv7417, essv5020, essv21131, essv24257, essv19969, essv11130, essv19681, essv18332, essv21239, essv5089, essv14990, essv4279, essv14461, essv1014, essv11877, essv22390, essv13042, essv12471, essv10443, essv7285, essv22044, essv19200, essv10734, essv5735, essv24748, essv21319, essv13164, essv23800, essv2602, essv1955, essv13607, essv12198, essv15746, essv5195, essv9017, essv10258, essv842, essv16812, essv16297, essv14525, essv8427, essv15867, essv22409, essv20430, essv10818, essv16681
SamplesNA11830, NA18592, NA18603, NA12801, NA18959, NA12865, NA18870, NA12813, NA19127, NA19005, NA19201, NA19119, NA19131, NA18960, NA11992, NA19138, NA18611, NA12156, NA11994, NA19207, NA12815, NA18990, NA18973, NA19007, NA10831, NA19152, NA12878, NA19161, NA18515, NA18516, NA18871, NA18981, NA19208, NA19221, NA19202, NA19142, NA19000, NA10830, NA19154, NA12264, NA19099, NA19101, NA18523, NA19132, NA10856, NA18593, NA18576, NA18542, NA11881, NA19140, NA10861, NA12763, NA07055, NA19223, NA19211, NA10860, NA19102, NA12875, NA19116, NA18872, NA18852, NA19129, NA18623, NA12154, NA19153, NA18577
Known GenesARHGAP11B, CHRFAM7A, DKFZP434L187, GOLGA8H, GOLGA8J, GOLGA8T, HERC2P10, LOC100288637, LOC101059918, ULK4P1, ULK4P2, ULK4P3
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)esv2758374
Frequency
Sample Size270
Observed Gain2
Observed Loss64
Observed Complex0
Frequencyn/a


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