A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7006123



Internal ID10350034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:110834943..110850883hg38UCSC Ensembl
Innerchr1:111377565..111393505hg19UCSC Ensembl
Innerchr1:111179088..111195028hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3815941
hg1915941
hg1815941
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764211
Supporting Variants
SamplesRW_0629
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)essv7006123
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