A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761420



Internal ID10028777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:32536630..32544043hg38UCSC Ensembl
Innerchr8:32394147..32401561hg19UCSC Ensembl
Innerchr8:32513689..32521103hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg387414
hg197415
hg187415
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6992923
SamplesSW_1134
Known GenesNRG1
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)esv2761420
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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