A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670624



Internal ID9936729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:58933885..58941359hg38UCSC Ensembl
chr16:58967789..58975263hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg387475
hg197475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5929410, essv6147181, essv6326208, essv6413717
SamplesNA18560, HG00584, NA18576, NA18549
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670624
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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