A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995932



Internal ID10353247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:50649738..50810146hg38UCSC Ensembl
Innerchr11:50608909..50769317hg19UCSC Ensembl
Innerchr11:50565485..50725893hg18UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38160409
hg19160409
hg18160409
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761672
Supporting Variants
SamplesSW_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)essv6995932
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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