A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668355



Internal ID9934460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:56691419..56700873hg38UCSC Ensembl
chr19:57202787..57212241hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg389455
hg199455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6535101, essv5843116, essv6362339, essv6232902, essv5421910, essv5962088, essv5766804, essv6312450, essv6593092, essv5446205, essv6519760, essv6235752, essv5422552, essv6005087, essv6403795, essv5920956, essv5608366, essv6379845, essv6034944, essv5952799, essv6527715, essv6539828, essv5503840, essv5849611, essv6211401, essv6452073, essv6525511, essv6177621, essv5826472, essv6356078
SamplesNA19701, NA19397, NA18508, NA19914, NA19704, HG01188, HG01051, NA19396, NA19382, NA19138, NA19917, NA19471, NA19189, NA18908, NA19347, NA19391, NA18907, NA18523, NA19625, NA19436, NA19147, NA20276, NA19835, NA19376, NA19328, NA19713, NA19102, NA19711, HG01378, NA18487
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668355
Frequency
Sample Size1151
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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