A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762950



Internal ID10030300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:126290159..126304652hg38UCSC Ensembl
Innerchr11:126160054..126174547hg19UCSC Ensembl
Innerchr11:125665264..125679757hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3814494
hg1914494
hg1814494
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020289
SamplesRW_0129
Known GenesDCPS, TIRAP
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)esv2762950
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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