A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761904



Internal ID10374702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:25936393..26012203hg38UCSC Ensembl
Innerchr16:25947714..26023524hg19UCSC Ensembl
Innerchr16:25855215..25931025hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3875811
hg1975811
hg1875811
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7000748
SamplesSW_0158
Known GenesHS3ST4
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)esv2761904
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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