A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026429



Internal ID10350241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13193881..13733327hg38UCSC Ensembl
Innerchr21:14566202..15105648hg19UCSC Ensembl
Innerchr21:13488073..14027519hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38539447
hg19539447
hg18539447
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760689
Supporting Variants
SamplesRW_0634
Known GenesLOC100288966, MIR3156-3, MIR8069, POTED
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)essv7026429
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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