A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758517



Internal ID9980594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:25721356..26338933hg38UCSC Ensembl
Innerchr20:25701992..26319569hg19UCSC Ensembl
Innerchr20:25649992..26267569hg18UCSC Ensembl
Innerchr20:25649992..26267569hg17UCSC Ensembl
Cytoband20p11.1
Allele length
AssemblyAllele length
hg38617578
hg19617578
hg18617578
hg17617578
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758790
Supporting Variantsessv20268, essv17906, essv12278, essv21671, essv11240, essv20935, essv902, essv1906, essv15324, essv4039, essv24650, essv15134, essv20025, essv12853, essv4850
SamplesNA11829, NA19204, NA18862, NA12801, NA12248, NA18635, NA07048, NA19120, NA12003, NA18976, NA19000, NA19101, NA12144, NA18540, NA19129
Known GenesFAM182A, FAM182B, LOC100134868, LOC284801, MIR663A, NCOR1P1
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)esv2758517
Frequency
Sample Size270
Observed Gain9
Observed Loss6
Observed Complex0
Frequencyn/a


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