A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004581



Internal ID10021932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23249949..23654682hg38UCSC Ensembl
Innerchr22:23592136..23996869hg19UCSC Ensembl
Innerchr22:21922136..22326869hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38404734
hg19404734
hg18404734
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762117
Supporting Variants
SamplesSW_1274
Known GenesBCR, C22orf43, CES5AP1, FBXW4P1, GUSBP11, IGLL1, ZDHHC8P1
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)essv7004581
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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