A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026618



Internal ID10002725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15567168..15900822hg38UCSC Ensembl
Innerchr22:16077141..16410795hg19UCSC Ensembl
Innerchr22:14457141..14790795hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38333655
hg19333655
hg18333655
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760727
Supporting Variants
SamplesRW_0614
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)essv7026618
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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