A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995329



Internal ID10355810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4274526..4298484hg38UCSC Ensembl
Innerchr11:4295756..4319714hg19UCSC Ensembl
Innerchr11:4252332..4276290hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3823959
hg1923959
hg1823959
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760621
Supporting Variants
SamplesSW_0285
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)essv6995329
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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