A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7010545



Internal ID10349775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:12368261..12383292hg38UCSC Ensembl
Innerchr4:12369885..12384916hg19UCSC Ensembl
Innerchr4:11978983..11994014hg18UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg3815032
hg1915032
hg1815032
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760834
Supporting Variants
SamplesRW_0622
Known Genes
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)essv7010545
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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