A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666389



Internal ID9932494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203034348..203039583hg38UCSC Ensembl
chr2:203899071..203904306hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg385236
hg195236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv755e199
Supporting Variantsessv5710253, essv5685287, essv6121119, essv5663756, essv5918863, essv6530373, essv5733702, essv5893304, essv5992918, essv6233953, essv5837840, essv6385369, essv5608360, essv5787772, essv5837666, essv5503598, essv6307416, essv5972850, essv5523765, essv6558647, essv5396560, essv5595645, essv5884699, essv5976183, essv5457219, essv5875322, essv6130617, essv6495938, essv5842362, essv5540263, essv5887583, essv5748760, essv6427159, essv5737221, essv6206428, essv6535316, essv6230625, essv5959571, essv5802939, essv5590859, essv5608606, essv6284642, essv5975958, essv5571009, essv6184014, essv6562663, essv6570650, essv6353055, essv6310954, essv6468634, essv6523329, essv5531508, essv5468559, essv6265183, essv6441453, essv5688390, essv5685029, essv5824669, essv5413274, essv6248507, essv6555430, essv5885768, essv5408846, essv6574971, essv6101991, essv5767497, essv6583365, essv6187900, essv6441115, essv6014155, essv5616325, essv5781225, essv6574201, essv6359417, essv5926061, essv6228601, essv6583462, essv6578710, essv6113495, essv5972817, essv5696367, essv6394274, essv5578960, essv5933370, essv6429079, essv6354638, essv6302589, essv6282725, essv5413657, essv5422650, essv5630894, essv5460496, essv5803807, essv5444967, essv5758729, essv5808773, essv6184562, essv6044844, essv6523977, essv6115360, essv5462683, essv6342822, essv5665533, essv5493789, essv6186453, essv6506180, essv6061075, essv5440743
SamplesHG00536, HG00142, HG00249, NA19664, HG00242, NA10851, NA12273, NA12414, HG01188, NA11931, HG01465, NA19393, NA12340, NA18606, HG00737, NA20808, HG00150, HG01051, HG00261, NA12155, NA12413, NA12341, HG00271, NA20814, NA07346, HG00138, NA19660, HG00122, NA07347, NA12283, NA12287, HG00369, NA19782, HG00185, NA12761, NA20759, HG01067, NA18874, HG00106, HG00156, NA20812, HG01495, NA11932, HG00232, NA11994, NA18617, HG00160, HG00118, HG01198, NA20342, NA12828, NA20753, HG00260, HG00133, HG01183, HG01136, NA12489, HG00557, HG00577, HG01515, NA20760, HG00584, HG00263, NA19788, HG00692, HG00740, HG01047, NA19654, NA20581, HG01197, NA20538, NA12249, NA18532, NA12827, HG01334, NA19682, NA12144, NA12778, HG00126, NA19685, HG01148, NA19652, HG00155, NA20801, NA19834, NA18952, HG00366, HG00375, NA20520, NA12046, NA20790, NA20527, NA07037, NA12763, NA19085, NA06986, HG00339, HG00269, HG01491, NA20786, NA19102, HG01251, NA20502, NA07056, HG00554, NA20754, HG01061, HG00437
Known GenesNBEAL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666389
Frequency
Sample Size1151
Observed Gain0
Observed Loss108
Observed Complex0
Frequencyn/a


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