A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762845



Internal ID10030195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:13087065..13142762hg38UCSC Ensembl
Innerchr10:13129065..13184762hg19UCSC Ensembl
Innerchr10:13169071..13224768hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3855698
hg1955698
hg1855698
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7018174
SamplesRW_0260
Known GenesCCDC3, OPTN
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)esv2762845
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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