A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760322



Internal ID10027685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:103889357..104503413hg38UCSC Ensembl
Innerchr11:103760085..104374141hg19UCSC Ensembl
Innerchr11:103265295..103879351hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38614057
hg19614057
hg18614057
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6996269, essv6996270, essv6996268
SamplesSW_1437, SW_1481, SW_0594
Known GenesDDI1, PDGFD
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)esv2760322
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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