A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676421



Internal ID9942526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:8223350..8224700hg38UCSC Ensembl
Outerchr1:8223311..8224757hg38UCSC Ensembl
Innerchr1:8283410..8284760hg19UCSC Ensembl
Outerchr1:8283371..8284817hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg381447
hg191447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6498094, essv6406057, essv6210977, essv6198697, essv5687952, essv5545977, essv6150189, essv6544502, essv5510957, essv6575204, essv6264533, essv5900225, essv5636477, essv6512348, essv5780250, essv6274360, essv5429899, essv5779092, essv6426066, essv6240205, essv6489753, essv5704499, essv6464576, essv5495917, essv6534122, essv5904040, essv5850095, essv5865835, essv6358608, essv5753462, essv6375769, essv6218567, essv5754571, essv5412219, essv5884882
SamplesHG01060, NA19058, NA19703, NA19684, NA12058, NA19067, NA18988, HG01070, NA19062, HG00537, HG00277, NA19719, HG01171, NA19070, HG00328, NA19347, HG00657, HG00275, NA18910, HG00619, NA20581, NA06989, HG00613, HG01334, HG00246, NA19685, HG00119, NA19072, HG00580, HG01375, NA19783, HG00513, NA19004, NA18612, HG01061
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676421
Frequency
Sample Size1151
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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