A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995161



Internal ID10356909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:87237542..87387242hg38UCSC Ensembl
Innerchr10:88997299..89146999hg19UCSC Ensembl
Innerchr10:88987279..89136979hg18UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg38149701
hg19149701
hg18149701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764246
Supporting Variants
SamplesSW_0579
Known GenesLOC439994, NUTM2A-AS1, NUTM2D
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)essv6995161
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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