A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666039



Internal ID9932144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148228902..148229989hg38UCSC Ensembl
chr5:147608465..147609552hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381088
hg191088
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6323041
SamplesHG01136
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666039
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