A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670405



Internal ID9936510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173659157..173660209hg38UCSC Ensembl
chr5:173086160..173087212hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg381053
hg191053
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6415285, essv5475038
SamplesNA20589, NA19102
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670405
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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