A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761908



Internal ID10374706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55085255..55090612hg38UCSC Ensembl
Innerchr16:55119167..55124524hg19UCSC Ensembl
Innerchr16:53676668..53682025hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg385358
hg195358
hg185358
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7001120
SamplesSW_1034
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)esv2761908
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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