A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7019041



Internal ID10335262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4228783..4338058hg38UCSC Ensembl
Innerchr11:4250013..4359288hg19UCSC Ensembl
Innerchr11:4206589..4315864hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38109276
hg19109276
hg18109276
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760194
Supporting Variants
SamplesRW_0099
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)essv7019041
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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