A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677611



Internal ID9943716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:167653848..167661820hg38UCSC Ensembl
chr5:167080853..167088825hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg387973
hg197973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5779681, essv5415035, essv5854217
SamplesNA20536, HG00275, HG00267
Known GenesTENM2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677611
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