A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004427



Internal ID10025323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15567168..15925481hg38UCSC Ensembl
Innerchr22:16052528..16410795hg19UCSC Ensembl
Innerchr22:14432528..14790795hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38358314
hg19358268
hg18358268
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763707
Supporting Variants
SamplesSW_1427
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)essv7004427
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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