A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762021



Internal ID10029371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:5293419..5377238hg38UCSC Ensembl
Innerchr16:5343420..5427239hg19UCSC Ensembl
Innerchr16:5283421..5367240hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3883820
hg1983820
hg1883820
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7000503, essv7000504, essv7000505
SamplesSW_0636, SW_0145, SW_0860
Known Genes
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)esv2762021
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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