A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763299



Internal ID10030649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42123260..42229767hg38UCSC Ensembl
Innerchr2:42350400..42456907hg19UCSC Ensembl
Innerchr2:42203904..42310411hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38106508
hg19106508
hg18106508
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7012979, essv7012968
SamplesSW_0834, SW_1172
Known GenesEML4
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)esv2763299
Frequency
Sample Size1109
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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