A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760453



Internal ID10376761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73745262..73756434hg38UCSC Ensembl
Innerchr17:71741401..71752573hg19UCSC Ensembl
Innerchr17:69252996..69264168hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3811173
hg1911173
hg1811173
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7024825, essv7024841, essv7024834, essv7024836, essv7024824, essv7024826, essv7024813, essv7024818, essv7024828, essv7024830, essv7024827, essv7024814, essv7024823, essv7024816, essv7024832, essv7024815, essv7024835, essv7024820, essv7024831, essv7024821, essv7024812, essv7024840, essv7024839, essv7024829, essv7024838, essv7024817, essv7024837, essv7024819
SamplesRW_0208, RW_0274, RW_0305, RW_0634, RW_0566, RW_0314, RW_0606, RW_0559, RW_0555, RW_0551, RW_0626, RW_0241, RW_0131, RW_0176, RW_0666, RW_0001, RW_0664, RW_0515, RW_0333, RW_0088, RW_0078, RW_0068, RW_0605, RW_0108, RW_0574, RW_0070, RW_0184, RW_0167
Known GenesLINC00469, LOC100134391
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)esv2760453
Frequency
Sample Size1109
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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