A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7012553



Internal ID10350794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:12800777..12819964hg38UCSC Ensembl
Innerchr5:12800889..12820076hg19UCSC Ensembl
Innerchr5:12853889..12873076hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3819188
hg1919188
hg1819188
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760947
Supporting Variants
SamplesRW_0652
Known GenesCT49
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)essv7012553
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