A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762175



Internal ID10374973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234859618..234865427hg38UCSC Ensembl
Innerchr1:234995365..235001174hg19UCSC Ensembl
Innerchr1:233061988..233067797hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg385810
hg195810
hg185810
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7005867
SamplesSW_1343
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)esv2762175
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