A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7009184



Internal ID10345622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75070039..75091588hg38UCSC Ensembl
Innerchr3:75119190..75140739hg19UCSC Ensembl
Innerchr3:75201880..75223429hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg3821550
hg1921550
hg1821550
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760746
Supporting Variants
SamplesRW_0515
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)essv7009184
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