A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6996085



Internal ID10023158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:59043768..59101750hg38UCSC Ensembl
Innerchr11:58811241..58869223hg19UCSC Ensembl
Innerchr11:58567817..58625799hg18UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3857983
hg1957983
hg1857983
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760644
Supporting Variants
SamplesSW_1327
Known GenesLOC283194
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)essv6996085
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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