A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763160



Internal ID10375840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:27135382..27174138hg38UCSC Ensembl
Innerchr17:25462408..25501164hg19UCSC Ensembl
Innerchr17:22486535..22525291hg18UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg3838757
hg1938757
hg1838757
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7024293
SamplesRW_0175
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)esv2763160
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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