A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761889



Internal ID10374687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:101066056..101151243hg38UCSC Ensembl
Innerchr15:101606261..101691448hg19UCSC Ensembl
Innerchr15:99423784..99508971hg18UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg3885188
hg1985188
hg1885188
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7000467
SamplesSW_0226
Known GenesLRRK1
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)esv2761889
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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