A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760457



Internal ID10027820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:27635888..27749600hg38UCSC Ensembl
Innerchr17:25962914..26076626hg19UCSC Ensembl
Innerchr17:22987041..23100753hg18UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg38113713
hg19113713
hg18113713
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv57e203
Supporting Variantsessv7024296, essv7024297, essv7024298
SamplesRW_0610, RW_0100, RW_0357
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)esv2760457
Frequency
Sample Size1109
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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