A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7028525



Internal ID10008697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:198118345..198142700hg38UCSC Ensembl
Innerchr3:197845216..197869571hg19UCSC Ensembl
Innerchr3:199329613..199353968hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3824356
hg1924356
hg1824356
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763718
Supporting Variants
SamplesSW_0239
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)essv7028525
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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