A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7013370



Internal ID10349171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:173177794..173187769hg38UCSC Ensembl
Innerchr5:172604797..172614772hg19UCSC Ensembl
Innerchr5:172537403..172547378hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg389976
hg199976
hg189976
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760980
Supporting Variants
SamplesRW_0608
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)essv7013370
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