A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004462



Internal ID10014583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15552149..15900822hg38UCSC Ensembl
Innerchr22:16077141..16425814hg19UCSC Ensembl
Innerchr22:14457141..14805814hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38348674
hg19348674
hg18348674
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763707
Supporting Variants
SamplesSW_0875
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)essv7004462
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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