A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762324



Internal ID10375122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:26123178..26198517hg38UCSC Ensembl
Innerchr3:26164669..26240008hg19UCSC Ensembl
Innerchr3:26139673..26215012hg18UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg3875340
hg1975340
hg1875340
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7008934
SamplesRW_0214
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)esv2762324
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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