A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761629



Internal ID10374427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:111591045..111608036hg38UCSC Ensembl
Innerchr10:113350803..113367794hg19UCSC Ensembl
Innerchr10:113340793..113357784hg18UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg3816992
hg1916992
hg1816992
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6995227
SamplesSW_0638
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)esv2761629
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