A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5993803



Internal ID8971206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191346896..191353878hg38UCSC Ensembl
chr3:191064685..191071667hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg386983
hg196983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664776
Supporting Variants
SamplesNA20529
Known GenesCCDC50
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5993803
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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