A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762154



Internal ID10029504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:8637384..8724268hg38UCSC Ensembl
Innerchr16:8731241..8818125hg19UCSC Ensembl
Innerchr16:8638742..8725626hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3886885
hg1986885
hg1886885
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7000517, essv7000518
SamplesSW_1485, SW_1384
Known GenesABAT, METTL22
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)esv2762154
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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