A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761716



Internal ID10374514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:123964222..123986104hg38UCSC Ensembl
Innerchr11:123834929..123856811hg19UCSC Ensembl
Innerchr11:123340139..123362021hg18UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg3821883
hg1921883
hg1821883
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6996314
SamplesSW_1323
Known GenesOR10S1
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)esv2761716
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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