A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026392



Internal ID10341394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10556305..10775586hg38UCSC Ensembl
Innerchr21:10736871..10956152hg19UCSC Ensembl
Innerchr21:9758742..9978023hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38219282
hg19219282
hg18219282
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760696
Supporting Variants
SamplesRW_0243
Known GenesTPTE
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)essv7026392
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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