A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026628



Internal ID10002306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15578812..15875621hg38UCSC Ensembl
Innerchr22:16102342..16399151hg19UCSC Ensembl
Innerchr22:14482342..14779151hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38296810
hg19296810
hg18296810
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760727
Supporting Variants
SamplesRW_0604
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)essv7026628
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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