A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1970766



Internal ID2464263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:121808943..121809247hg19UCSC Ensembl
Outerchr4:121808731..121809449hg19UCSC Ensembl
Innerchr4:122028393..122028697hg18UCSC Ensembl
Outerchr4:122028181..122028899hg18UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4687973
SamplesNA18507
Known GenesPRDM5
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv1970766
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer