A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761681



Internal ID10029031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67717083..67966419hg38UCSC Ensembl
Innerchr11:67484554..67733890hg19UCSC Ensembl
Innerchr11:67241130..67490466hg18UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38249337
hg19249337
hg18249337
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6996093
SamplesSW_1170
Known GenesFAM86C2P
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)esv2761681
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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