A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760716



Internal ID10028078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23576790..23637032hg38UCSC Ensembl
Innerchr22:23918977..23979219hg19UCSC Ensembl
Innerchr22:22248977..22309219hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3860243
hg1960243
hg1860243
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7026738, essv7026746, essv7026741, essv7026740, essv7026743, essv7026742, essv7026739, essv7026737
SamplesRW_0322, RW_0275, RW_0534, RW_0260, RW_0605, RW_0545, RW_0006, RW_0012
Known GenesC22orf43, IGLL1
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)esv2760716
Frequency
Sample Size1109
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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