A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664865



Internal ID9584284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113769240..113774121hg38UCSC Ensembl
chr2:114526817..114531698hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg384882
hg194882
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6341718, essv5506597, essv6511874
SamplesNA19235, NA19239, NA19240
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664865
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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