A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763701



Internal ID10031051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21819244..22219595hg38UCSC Ensembl
Innerchr22:22173533..22573987hg19UCSC Ensembl
Innerchr22:20503533..20903987hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38400352
hg19400455
hg18400455
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7004570, essv7004579, essv7004573, essv7004574, essv7004575, essv7004576, essv7004572, essv7004571, essv7004577, essv7004580
SamplesSW_1483, SW_0183, SW_1030, SW_1292, SW_0285, SW_0592, SW_0172, SW_0660, SW_0716, SW_1411
Known GenesMAPK1, PPM1F, TOP3B
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)esv2763701
Frequency
Sample Size1109
Observed Gain6
Observed Loss4
Observed Complex0
Frequencyn/a


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