A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7030382



Internal ID10368498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:184842139..184848840hg38UCSC Ensembl
Innerchr4:185763293..185769994hg19UCSC Ensembl
Innerchr4:186000287..186006988hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg386702
hg196702
hg186702
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763803
Supporting Variants
SamplesSW_1270
Known GenesLOC731424
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)essv7030382
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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