A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7027657



Internal ID10372378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:34637053..34648667hg38UCSC Ensembl
Innerchr1:35102654..35114268hg19UCSC Ensembl
Innerchr1:34875241..34886855hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3811615
hg1911615
hg1811615
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760077
Supporting Variants
SamplesSW_1439
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)essv7027657
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