A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658282



Internal ID9924387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68514798..68625304hg38UCSC Ensembl
Outerchr4:68514427..68625674hg38UCSC Ensembl
Innerchr4:69380516..69491022hg19UCSC Ensembl
Outerchr4:69380145..69491392hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38111248
hg19111248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv951e199
Supporting Variantsessv5976050, essv6551760, essv5766781, essv5907526, essv6567991, essv6244675, essv5459087, essv6447047, essv6421181, essv6154947, essv5471620, essv5788222, essv6486073, essv6174400, essv6382559, essv5820746, essv5653809, essv5970619, essv6136135, essv5594839, essv5550505, essv6150206, essv5410361, essv6142471, essv5927835, essv6156071, essv5553545, essv6493555, essv6336420, essv6123774, essv5961874, essv5987511, essv5796350, essv5700365, essv6399905, essv6527292, essv6330086, essv6241651, essv6188930, essv5590566, essv5631030, essv5805708, essv5638344, essv6475635, essv5408041, essv5787881, essv5555671, essv6510108, essv6458824, essv5803958, essv6011619, essv5999704, essv6082734, essv6556307, essv5597223
SamplesNA20588, NA20761, NA20543, NA20766, NA20508, NA20514, NA20531, NA20816, NA20813, NA20752, NA20805, NA20808, NA20771, NA20814, NA20796, NA20589, NA20586, NA20795, NA20769, NA20513, NA20759, NA20539, NA20518, NA20819, NA20757, NA20515, NA20753, NA20818, NA20787, NA20521, NA20810, NA20770, NA20525, NA20538, NA20828, NA20799, NA20522, NA20801, NA20815, NA20804, NA20520, NA20785, NA20530, NA20527, NA20504, NA20544, NA20803, NA20797, NA20758, NA20826, NA20528, NA20502, NA20585, NA20754, NA20509
Known GenesUGT2B17
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658282
Frequency
Sample Size1151
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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