A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675694



Internal ID9941799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:59344998..59351629hg38UCSC Ensembl
chr11:59112471..59119102hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg386632
hg196632
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5447323, essv6334243, essv5887973, essv6145618, essv6411912, essv6367846, essv6093716
SamplesNA19446, NA19374, NA19381, NA18868, NA19147, NA19473, NA19380
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675694
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