A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763131



Internal ID10375811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:10789147..10810275hg38UCSC Ensembl
Innerchr16:10883004..10904132hg19UCSC Ensembl
Innerchr16:10790505..10811633hg18UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg3821129
hg1921129
hg1821129
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7023591
SamplesRW_0114
Known GenesTVP23A
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)esv2763131
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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