A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673049



Internal ID9592468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165193068..165205969hg38UCSC Ensembl
chr2:166049578..166062479hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3812902
hg1912902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5557919
SamplesHG00580
Known GenesSCN3A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673049
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