A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672980



Internal ID9592399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:24464820..24464879hg38UCSC Ensembl
Outerchr8:24464663..24465032hg38UCSC Ensembl
Innerchr8:24322333..24322392hg19UCSC Ensembl
Outerchr8:24322176..24322545hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38370
hg19370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6001185, essv5460266, essv6461160, essv6049962, essv5932698, essv6207193, essv5630496, essv5491737, essv5870797, essv6107419, essv6109660, essv5495396, essv6226825, essv6214911, essv6475602, essv6304115, essv5487119, essv6150539, essv5810069, essv5962181, essv6117090, essv6444896, essv5908169, essv5431854, essv6228861, essv5621204, essv6025049, essv5444371, essv6366826, essv5503543, essv5656966, essv5471416, essv5891553, essv6050547, essv6067253, essv5534837, essv5760265, essv5789149, essv5735473, essv6103659, essv6383759, essv5763053, essv5459492, essv5825768, essv5585230, essv6186004, essv5963234, essv6358875, essv6197279, essv6078578, essv5933718, essv5601100, essv5639388, essv5444467, essv5480918, essv5663804, essv5730956, essv5416686, essv5622176, essv5805317, essv5949105, essv6404615, essv6210134, essv6312981, essv5882233, essv5443840, essv5652288, essv6114990, essv6075661, essv6393276, essv6163568, essv6132223, essv5920421, essv5868332, essv5842827, essv6401641, essv6422497, essv6058800, essv5511297, essv6451427, essv6159010, essv5445985, essv6107613, essv5960156, essv5764722, essv6520300, essv5585433, essv5853653, essv6536194, essv5760460, essv5515724, essv6140810, essv6082990, essv5578762, essv6080912, essv6158910, essv5794130, essv5442815, essv5725087, essv6295348, essv6575798, essv5473362, essv5470578, essv5856269, essv5504824, essv6563953, essv6522043, essv5891116, essv5398176, essv6053511, essv5663774, essv6223455, essv6314655, essv6556697, essv6303997, essv5458746, essv6568090, essv6313742, essv6451357, essv6344898, essv5866272, essv5542086, essv5875362, essv6278547, essv6259836, essv5910156, essv5711615, essv5729051, essv6504127, essv6133118, essv6085389, essv5569211, essv5833404, essv5888450, essv6546877, essv6218219
SamplesHG00323, HG01357, HG01441, HG00309, HG00252, HG00536, HG01440, NA18595, HG00619, NA18534, HG00344, NA18530, HG00418, NA19819, HG00328, HG01055, HG00437, HG00369, HG01083, HG00112, HG00274, HG00464, HG00596, NA19401, HG01079, NA18545, HG01389, HG00463, NA19359, HG00614, HG01492, HG01082, NA18542, HG00139, NA18546, HG01188, HG00111, HG00581, HG00187, HG00404, HG00280, HG01101, HG00331, HG01171, HG00353, NA18596, HG00247, HG00543, HG00154, HG01107, NA19463, NA18624, HG00250, NA19076, HG00472, HG01375, HG00421, HG00337, NA18635, NA18536, HG00638, NA18622, HG00259, NA18623, HG01061, HG00372, HG01183, NA18856, NA18638, NA19398, HG00419, HG00125, NA18637, NA18982, HG00254, NA19663, HG00284, HG01187, HG00343, NA19082, HG00584, HG00114, HG00373, HG00436, NA19380, NA18633, NA20291, HG00653, NA19703, HG00268, HG01066, NA19373, HG00263, NA19657, NA19664, NA19901, HG01170, HG01069, HG01356, HG00249, HG00277, HG01080, NA19720, HG00246, HG01383, HG00236, HG01149, HG01137, HG00443, NA18599, NA19391, HG01334, HG00580, NA19719, NA19434, HG01390, HG00123, HG00693, HG01125, HG00251, HG00320, HG00275, NA18549, HG00442, HG01102, HG01377, HG00143, HG00336, HG00671, HG00345, NA19385, HG00271, HG00278, HG01067, HG01354, NA19439
Known GenesADAM7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672980
Frequency
Sample Size1151
Observed Gain0
Observed Loss136
Observed Complex0
Frequencyn/a


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