A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6996086



Internal ID10006530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:59043992..59086696hg38UCSC Ensembl
Innerchr11:58811465..58854169hg19UCSC Ensembl
Innerchr11:58568041..58610745hg18UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3842705
hg1942705
hg1842705
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760644
Supporting Variants
SamplesSW_0091
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)essv6996086
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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