A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995854



Internal ID10025888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:38830844..38931527hg38UCSC Ensembl
Innerchr11:38852394..38953077hg19UCSC Ensembl
Innerchr11:38808970..38909653hg18UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38100684
hg19100684
hg18100684
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761667
Supporting Variants
SamplesSW_1450
Known Genes
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)essv6995854
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