A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666668



Internal ID9586087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:49480583..49480916hg38UCSC Ensembl
Outerchr3:49480426..49481069hg38UCSC Ensembl
Innerchr3:49518016..49518349hg19UCSC Ensembl
Outerchr3:49517859..49518502hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38644
hg19644
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5519095, essv6478847, essv5767647, essv6243378, essv6462343, essv6270141, essv5618685, essv5405638, essv5967589, essv5844148, essv5553282, essv6394626, essv6003796, essv6456951, essv6042382, essv6468571, essv5736822, essv6528062, essv6330445, essv5848848, essv6475905, essv5604509, essv6151950, essv5677983, essv6460824, essv6344702, essv6549041, essv6130392, essv6189340, essv5464522, essv5763724, essv5753338, essv6573649, essv6214418, essv6219528, essv6245313, essv5909202, essv5442596, essv5600381, essv6476817, essv5429872, essv5486536, essv6328316, essv5857115, essv5760824, essv6129689, essv6365437, essv5928145, essv6237772, essv5673340, essv6498514, essv5807855, essv5744811, essv5706798, essv6099599, essv6541320, essv5763927, essv6228683, essv5623050, essv6153231, essv5583011, essv6036041, essv5620203, essv6485749, essv6263234
SamplesHG00189, HG00114, NA11830, HG00143, NA11995, HG01052, HG00187, HG01389, HG01374, HG00233, HG00367, HG00244, HG01456, NA19443, HG00127, HG01488, NA20586, HG00736, NA07347, HG01354, HG01083, HG01080, HG01067, HG00335, NA06984, HG00262, NA11994, HG01440, HG01048, NA20515, HG00133, NA20800, NA20505, HG00732, HG01095, NA19717, HG00320, HG00263, HG00275, HG01383, HG00140, HG00276, HG01075, HG01148, NA20801, HG00336, NA19834, NA19749, HG00353, HG00136, NA12046, HG01375, HG00237, HG00319, NA06986, NA19818, HG01491, HG00312, HG00112, HG00131, HG01251, HG00252, NA20502, NA12006, HG00180
Known GenesDAG1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666668
Frequency
Sample Size1151
Observed Gain0
Observed Loss65
Observed Complex0
Frequencyn/a


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