A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762122



Internal ID10029472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:36142329..36183513hg38UCSC Ensembl
Innerchr22:36538377..36579561hg19UCSC Ensembl
Innerchr22:34868323..34909507hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3841185
hg1941185
hg1841185
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7004757
SamplesSW_1400
Known GenesAPOL3
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)esv2762122
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