A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663060



Internal ID9929165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41569172..41582606hg38UCSC Ensembl
chr5:41569274..41582708hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3813435
hg1913435
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6256526, essv5533491, essv6498679, essv5468252, essv5901985, essv6016408, essv6176076
SamplesNA19067, NA19002, NA19007, NA18613, NA19000, NA19063, NA19074
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663060
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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