A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026919



Internal ID9994865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25304367..25612136hg38UCSC Ensembl
Innerchr22:25700334..26008103hg19UCSC Ensembl
Innerchr22:24030334..24338103hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38307770
hg19307770
hg18307770
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760720
Supporting Variants
SamplesRW_0250
Known GenesADRBK2, CRYBB2P1, 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)essv7026919
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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