A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7000956



Internal ID10012114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:34962980..35484941hg38UCSC Ensembl
Innerchr16:34197351..34719312hg19UCSC Ensembl
Innerchr16:34054852..34576813hg18UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38521962
hg19521962
hg18521962
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762322
Supporting Variants
SamplesSW_0677
Known GenesLOC146481, LOC283914, UBE2MP1
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)essv7000956
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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