A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762333



Internal ID10375131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:80273858..80476086hg38UCSC Ensembl
Innerchr16:80307755..80509983hg19UCSC Ensembl
Innerchr16:78865256..79067484hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38202229
hg19202229
hg18202229
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7001459, essv7001460, essv7001458
SamplesSW_0628, SW_0170, SW_0352
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)esv2762333
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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