A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757914



Internal ID9633373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197128182..197770997hg38UCSC Ensembl
Innerchr3:196855053..197497868hg19UCSC Ensembl
Innerchr3:198339450..198982265hg18UCSC Ensembl
Innerchr3:198343363..198986178hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38642816
hg19642816
hg18642816
hg17642816
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759214
Supporting Variantsessv3050, essv20087, essv4723, essv18850, essv22831, essv17254, essv14642, essv22769, essv19254, essv23378, essv1960, essv23147, essv25014, essv10833, essv15818, essv19185, essv17807, essv12232, essv8604, essv18775, essv8141, essv17638, essv16998, essv21262, essv22970, essv16251, essv22521, essv11770, essv9241, essv16340, essv11975, essv24061, essv10152, essv21379, essv19276, essv13728, essv2785, essv18068, essv23776, essv16020, essv10078, essv24886, essv19011, essv2206, essv12686, essv12715, essv24836, essv16242, essv15700, essv15456, essv17959, essv23080, essv10312, essv22356, essv9679, essv24132, essv18397, essv4767, essv1490, essv11831, essv2047, essv254, essv22581, essv23463, essv14336, essv6127, essv23427, essv21192, essv19911, essv8938, essv9905, essv10100, essv8792, essv1516, essv6670, essv15873, essv13934, essv14695, essv21782, essv18291, essv18353, essv24710, essv69, essv13920, essv17889, essv13134, essv14550, essv13531
SamplesNA11830, NA11829, NA18508, NA18980, NA19145, NA12751, NA12004, NA18504, NA18959, NA12865, NA12750, NA07357, NA12813, NA12812, NA10846, NA10854, NA19119, NA12891, NA18960, NA07048, NA19130, NA18949, NA12005, NA07019, NA11994, NA19128, NA19159, NA10855, NA19239, NA10839, NA19200, NA10847, NA19194, NA12753, NA12003, NA10831, NA19161, NA18991, NA18871, NA18948, NA18503, NA10838, NA18981, NA19202, NA12249, NA18912, NA18532, NA12239, NA12145, NA19099, NA19101, NA19160, NA18608, NA18914, NA11882, NA19206, NA18517, NA10859, NA18913, NA19144, NA19193, NA12874, NA07348, NA12763, NA18501, NA12740, NA19223, NA18987, NA19093, NA18521, NA18500, NA18506, NA19102, NA12875, NA18854, NA18505, NA07000, NA07034, NA18620
Known GenesBDH1, DLG1, DLG1-AS1, FYTTD1, KIAA0226, LOC220729, MIR4797, MIR922
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)esv2757914
Frequency
Sample Size270
Observed Gain30
Observed Loss56
Observed Complex0
Frequencyn/a


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