A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7009238



Internal ID10333441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:95980237..95987157hg38UCSC Ensembl
Innerchr3:95699081..95706001hg19UCSC Ensembl
Innerchr3:97181771..97188691hg18UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg386921
hg196921
hg186921
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760728
Supporting Variants
SamplesRW_0048
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)essv7009238
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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