A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761993



Internal ID10374791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14956917..15402409hg38UCSC Ensembl
Innerchr18:14956916..15402408hg19UCSC Ensembl
Innerchr18:14946916..15392408hg18UCSC Ensembl
Cytoband18p11.1
Allele length
AssemblyAllele length
hg38445493
hg19445493
hg18445493
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7002704
SamplesSW_0585
Known GenesLOC400644, LOC644669
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)esv2761993
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