A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004485



Internal ID10008644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16384236..16807330hg38UCSC Ensembl
Innerchr22:16864898..17288220hg19UCSC Ensembl
Innerchr22:15244898..15668220hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38423095
hg19423323
hg18423323
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763696
Supporting Variants
SamplesSW_0226
Known GenesANKRD62P1-PARP4P3, CCT8L2, TPTEP1, XKR3
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)essv7004485
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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