A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7006921



Internal ID10332158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196846661..196936029hg38UCSC Ensembl
Innerchr1:196815791..196905159hg19UCSC Ensembl
Innerchr1:195082414..195171782hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3889369
hg1989369
hg1889369
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764178
Supporting Variants
SamplesRW_0014
Known GenesCFHR4
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)essv7006921
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