A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995860



Internal ID10354381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:41564590..41566294hg38UCSC Ensembl
Innerchr11:41586140..41587844hg19UCSC Ensembl
Innerchr11:41542716..41544420hg18UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg381705
hg191705
hg181705
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761668
Supporting Variants
SamplesSW_0170
Known Genes
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)essv6995860
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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