A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761582



Internal ID10028935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:15457276..15475000hg38UCSC Ensembl
Innerchr1:15783771..15801495hg19UCSC Ensembl
Innerchr1:15656358..15674082hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3817725
hg1917725
hg1817725
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6994522
SamplesSW_1130
Known GenesCELA2A
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)esv2761582
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer