A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664831



Internal ID9930936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191608758..191617717hg38UCSC Ensembl
chr3:191326547..191335506hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg388960
hg198960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6497872, essv5518492, essv6020180, essv5855311
SamplesNA19355, NA19130, NA18910, HG01108
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664831
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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