A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995286



Internal ID10012014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:3395259..3591901hg38UCSC Ensembl
Innerchr11:3416489..3613131hg19UCSC Ensembl
Innerchr11:3373065..3569707hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38196643
hg19196643
hg18196643
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760300
Supporting Variants
SamplesSW_0673
Known GenesLOC650368
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)essv6995286
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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