A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764071



Internal ID10031421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:22342635..22519221hg38UCSC Ensembl
Innerchr8:22200148..22376734hg19UCSC Ensembl
Innerchr8:22256093..22432679hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38176587
hg19176587
hg18176587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6992835, essv6992836
SamplesSW_1231, SW_0255
Known GenesPIWIL2, PPP3CC, SLC39A14
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)esv2764071
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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