A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763498



Internal ID10030848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:129423618..130021576hg38UCSC Ensembl
Innerchr5:128759311..129357269hg19UCSC Ensembl
Innerchr5:128787210..129385168hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38597959
hg19597959
hg18597959
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7031463
SamplesSW_0800
Known GenesADAMTS19, CHSY3, KIAA1024L
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)esv2763498
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer