A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666074



Internal ID9585493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:20362772..20370678hg38UCSC Ensembl
Outerchr20:20362401..20371048hg38UCSC Ensembl
Innerchr20:20343416..20351322hg19UCSC Ensembl
Outerchr20:20343045..20351692hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg388648
hg198648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5403779, essv6382651, essv5668828, essv5725162, essv6421215, essv5894440, essv6223210, essv5464954, essv5948140, essv5441556, essv5953797, essv5554207, essv5900115, essv6521785, essv5737768, essv6018526, essv6526665, essv6120120, essv6430550, essv5975788, essv6078327, essv6174819, essv6447644, essv6295380, essv5435141, essv5644275, essv5798045, essv5839835, essv5697187, essv5773748, essv5643854, essv6340512, essv6064753, essv6523162, essv5512013, essv6537310, essv5729546, essv5675942, essv6473437, essv6539664
SamplesNA19055, NA19066, NA18999, NA18988, NA18967, NA19068, NA18982, NA19062, NA19088, NA19054, NA19079, NA19075, NA18985, NA18975, NA19007, NA19070, NA19056, NA19077, NA19081, NA19064, NA19000, NA19084, NA19009, NA18963, NA19012, NA19003, NA19072, NA18950, NA18941, NA19010, NA19083, NA19085, NA19078, NA18971, NA19060, NA19080, NA18983, NA18989, NA19065, NA19074
Known GenesINSM1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666074
Frequency
Sample Size1151
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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