A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761242



Internal ID10028604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:15545551..15555938hg38UCSC Ensembl
Innerchr8:15403060..15413447hg19UCSC Ensembl
Innerchr8:15447431..15457818hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3810388
hg1910388
hg1810388
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv155e203
Supporting Variantsessv7016397, essv7016398, essv7016396
SamplesRW_0115, RW_0602, RW_0622
Known GenesTUSC3
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)esv2761242
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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