A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026430



Internal ID10338989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13197963..13715728hg38UCSC Ensembl
Innerchr21:14570284..15088049hg19UCSC Ensembl
Innerchr21:13492155..14009920hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38517766
hg19517766
hg18517766
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760689
Supporting Variants
SamplesRW_0190
Known GenesLOC100288966, MIR3156-3, 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)essv7026430
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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