A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995525



Internal ID10358146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5766175..5787818hg38UCSC Ensembl
Innerchr11:5787405..5809048hg19UCSC Ensembl
Innerchr11:5743981..5765624hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3821644
hg1921644
hg1821644
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760333
Supporting Variants
SamplesSW_0639
Known GenesOR52N5
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)essv6995525
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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