A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026327



Internal ID10001018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:50508310..50526130hg38UCSC Ensembl
Innerchr20:49124847..49142667hg19UCSC Ensembl
Innerchr20:48558254..48576074hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3817821
hg1917821
hg1817821
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760682
Supporting Variants
SamplesRW_0573
Known GenesPTPN1
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)essv7026327
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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