A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004846



Internal ID10353198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42559425..42584045hg38UCSC Ensembl
Innerchr22:42955431..42980051hg19UCSC Ensembl
Innerchr22:41285375..41309995hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3824621
hg1924621
hg1824621
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763695
Supporting Variants
SamplesSW_0090
Known GenesPOLDIP3, RRP7B, SERHL2
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)essv7004846
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