A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6996088



Internal ID10026879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:60991573..61113194hg38UCSC Ensembl
Innerchr11:60759045..60880666hg19UCSC Ensembl
Innerchr11:60515621..60637242hg18UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38121622
hg19121622
hg18121622
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760588
Supporting Variants
SamplesSW_1506
Known GenesCD5, CD6
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)essv6996088
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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