A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662674



Internal ID9928779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173068983..173071831hg38UCSC Ensembl
chr5:172495986..172498834hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg382849
hg192849
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5699338, essv5398767
SamplesHG00653, HG00595
Known GenesCREBRF
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662674
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