A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757988



Internal ID9633447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:21149044..21713081hg38UCSC Ensembl
Innerchr5:21149153..21713190hg19UCSC Ensembl
Innerchr5:21184910..21748947hg18UCSC Ensembl
Innerchr5:21184910..21748947hg17UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38564038
hg19564038
hg18564038
hg17564038
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759331
Supporting Variantsessv18858, essv18197, essv18946, essv19197, essv1747, essv16798, essv15304, essv16074, essv16703, essv21307, essv12552, essv10789, essv10479, essv20678, essv17895, essv15128, essv2788, essv10067, essv58, essv16496, essv21041, essv2203, essv19394, essv8144, essv10816, essv21388, essv17655, essv21008, essv18432, essv9191, essv13043, essv24388, essv7412, essv17238, essv8827, essv23972, essv21522, essv22547, essv21183, essv12206, essv20906, essv19983, essv23581, essv15485, essv22958, essv4376, essv17452, essv22208, essv22128, essv11244, essv19925, essv21282, essv18707, essv23211, essv10163, essv14588, essv21675, essv19524, essv9011, essv10369, essv6660, essv16339, essv11655, essv18123, essv841, essv341, essv20621, essv17515, essv10290, essv10156, essv2317, essv23072, essv24855
SamplesNA19222, NA11830, NA19204, NA18862, NA18508, NA12751, NA12801, NA12248, NA12865, NA10857, NA19098, NA07357, NA12813, NA18940, NA12812, NA18960, NA07048, NA12762, NA19130, NA12005, NA12156, NA12044, NA19128, NA10855, NA18973, NA11993, NA11831, NA19210, NA12003, NA12878, NA18515, NA18991, NA18871, NA18503, NA18573, NA19142, NA11840, NA12892, NA19154, NA19099, NA12707, NA19101, NA18523, NA19132, NA12043, NA18608, NA19206, NA06991, NA12716, NA11881, NA12864, NA12057, NA12873, NA19193, NA12874, NA07348, NA18501, NA12740, NA18971, NA18987, NA19093, NA18506, NA18872, NA18852, NA07056, NA18505, NA19129, NA12006, NA18623, NA07000, NA18997
Known GenesGUSBP1
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)esv2757988
Frequency
Sample Size270
Observed Gain53
Observed Loss20
Observed Complex0
Frequencyn/a


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