A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676897



Internal ID9943002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69891849..69895727hg38UCSC Ensembl
chr2:70118981..70122859hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg383879
hg193879
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5447399
SamplesNA18963
Known GenesSNRNP27
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676897
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