A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7023261



Internal ID9986363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43592920..43696355hg38UCSC Ensembl
Innerchr15:43885118..43988553hg19UCSC Ensembl
Innerchr15:41672410..41775845hg18UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg38103436
hg19103436
hg18103436
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760393
Supporting Variants
SamplesRW_0034
Known GenesCATSPER2, CKMT1A, CKMT1B, RNU6-28P, STRC
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)essv7023261
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