A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7024298



Internal ID9988625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:27647232..27748498hg38UCSC Ensembl
Innerchr17:25974258..26075524hg19UCSC Ensembl
Innerchr17:22998385..23099651hg18UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg38101267
hg19101267
hg18101267
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760457
Supporting Variants
SamplesRW_0100
Known GenesLGALS9
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)essv7024298
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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