A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763692



Internal ID10031042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:48963153..49685786hg38UCSC Ensembl
Innerchr22:49358965..50079434hg19UCSC Ensembl
Innerchr22:47744969..48465438hg18UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38722634
hg19720470
hg18720470
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7004853, essv7004851, essv7004852
SamplesSW_1234, SW_0786, SW_1055
Known GenesC22orf34
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)esv2763692
Frequency
Sample Size1109
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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