A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026629



Internal ID9987274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15552149..15875621hg38UCSC Ensembl
Innerchr22:16102342..16425814hg19UCSC Ensembl
Innerchr22:14482342..14805814hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38323473
hg19323473
hg18323473
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760727
Supporting Variants
SamplesRW_0062
Known GenesBMS1P17, BMS1P18, POTEH
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)essv7026629
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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