A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004496



Internal ID10366506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18143362..18147293hg38UCSC Ensembl
Innerchr22:18626129..18630060hg19UCSC Ensembl
Innerchr22:17006129..17010060hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg383932
hg193932
hg183932
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763700
Supporting Variants
SamplesSW_1184
Known Genes
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)essv7004496
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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