A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7023603



Internal ID9994198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14794738..14896006hg38UCSC Ensembl
Innerchr16:14888595..14989863hg19UCSC Ensembl
Innerchr16:14796096..14897364hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38101269
hg19101269
hg18101269
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760416
Supporting Variants
SamplesRW_0230
Known GenesABCC6P2, NOMO1
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)essv7023603
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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