A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7024768



Internal ID10343260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:53932708..54047375hg38UCSC Ensembl
Innerchr17:52010069..52124736hg19UCSC Ensembl
Innerchr17:49365068..49479735hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38114668
hg19114668
hg18114668
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760458
Supporting Variants
SamplesRW_0296
Known GenesMIR548AJ2
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)essv7024768
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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