A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7017081



Internal ID10344841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:101600851..101633831hg38UCSC Ensembl
Innerchr8:102613079..102646059hg19UCSC Ensembl
Innerchr8:102682255..102715235hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3832981
hg1932981
hg1832981
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761235
Supporting Variants
SamplesRW_0356
Known GenesGRHL2
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)essv7017081
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