A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660542



Internal ID9579961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89923008..89927414hg38UCSC Ensembl
Outerchr16:89922637..89927784hg38UCSC Ensembl
Innerchr16:89989416..89993822hg19UCSC Ensembl
Outerchr16:89989045..89994192hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg385148
hg195148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5447418, essv5444594, essv6393967, essv6035744, essv6077264, essv5861612, essv5913328, essv6210821, essv5732946, essv5818359, essv6153149, essv5756245, essv6194085, essv5513009, essv5632700, essv5791895, essv5629258, essv6276756, essv6482942, essv6417696, essv5806816, essv6156282, essv6208866, essv5733278, essv6370521, essv6186909, essv6052213, essv6443020, essv6477290, essv6352287, essv6364033, essv6211924, essv5832084, essv6108110, essv6098163, essv6313671, essv6212688, essv6281918, essv5692809, essv6356712, essv5461683, essv5748357, essv5827624, essv6093134, essv6082665, essv6530902, essv6576637, essv5667763
SamplesHG00323, HG00309, HG00313, HG00344, HG00328, HG00274, HG00310, HG00326, HG00334, HG00280, HG00335, HG00331, HG00319, HG00353, HG00342, HG00266, HG00321, HG00339, HG00346, HG00179, HG00337, HG00330, HG00338, HG00178, HG00276, HG00284, HG00343, HG00373, HG00268, HG00325, HG00185, HG00273, HG00282, HG00277, HG00329, HG00181, HG00281, HG00285, HG00320, HG00275, HG00324, HG00183, HG00336, HG00272, HG00345, HG00271, HG00278, HG00327
Known GenesTUBB3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660542
Frequency
Sample Size1151
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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