A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026910



Internal ID9999874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268018..25526581hg38UCSC Ensembl
Innerchr22:25663985..25922548hg19UCSC Ensembl
Innerchr22:23993985..24252548hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38258564
hg19258564
hg18258564
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760720
Supporting Variants
SamplesRW_0539
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
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)essv7026910
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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