A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004703



Internal ID10021689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268018..25518364hg38UCSC Ensembl
Innerchr22:25663985..25914331hg19UCSC Ensembl
Innerchr22:23993985..24244331hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38250347
hg19250347
hg18250347
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763705
Supporting Variants
SamplesSW_1265
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)essv7004703
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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