A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7001468



Internal ID10019579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:81796870..81801504hg38UCSC Ensembl
Innerchr16:81830475..81835109hg19UCSC Ensembl
Innerchr16:80387976..80392610hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg384635
hg194635
hg184635
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761926
Supporting Variants
SamplesSW_1174
Known GenesPLCG2
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)essv7001468
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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