A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672689



Internal ID9592108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:147015148..147017744hg38UCSC Ensembl
chr5:146394711..146397307hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg382597
hg192597
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6484059, essv6302394, essv6425730, essv5513451, essv6316510, essv5576676, essv6173456, essv5877107, essv5975643, essv6433859, essv6375747, essv6354345, essv6353473, essv6176394, essv6019278, essv6260178, essv5478811, essv6098586, essv6033766, essv5906084, essv6069928, essv6319983, essv6002848, essv6109227, essv6101825, essv5984026, essv5753551, essv6491399, essv6361626, essv5541512, essv5730750, essv6132425, essv6034942, essv6499338, essv5941446, essv6144830, essv5519224, essv6075820, essv5961971, essv6435387, essv5702475, essv6568521, essv6502315, essv6029049, essv5481876, essv5757204, essv6569653, essv5894646, essv5916258, essv5935100, essv6509707, essv5944937, essv6105405, essv5662906, essv5816531, essv6449668, essv5924474, essv6293609, essv5852971, essv5983473, essv6242261, essv6450557, essv5805174, essv5701328, essv5475985, essv5690979, essv5715188, essv6115980, essv6471498, essv5796106, essv6174810, essv5473444, essv5717433, essv5756203, essv6475462, essv6125078, essv5903735, essv6417496, essv6565563, essv6159721, essv5837935, essv6007594, essv6273072, essv5970975, essv6257720, essv6037753, essv5814380, essv6481956, essv6359979
SamplesHG00613, HG01441, NA19012, NA18605, HG00607, NA18595, HG01250, HG00437, HG01342, NA18612, NA19072, NA20299, NA18603, HG00614, NA18953, HG00475, NA18947, NA19010, NA18573, NA18608, HG01350, NA18541, NA18546, NA18965, NA18596, NA18632, HG00592, HG00543, NA18559, NA19062, NA19054, NA18627, NA19068, NA18576, NA18622, NA18960, NA18618, NA18617, NA18991, HG00689, NA18592, NA19083, NA19066, NA18959, HG00419, NA18547, NA18593, NA19056, NA18539, NA19000, NA19080, NA18633, HG00653, NA18572, NA19005, HG00560, HG00501, HG00273, NA18942, NA18613, NA18988, HG00512, HG00534, NA18945, HG00595, NA18552, NA19729, NA18599, NA19723, NA19078, NA18538, NA18560, HG00654, NA19064, NA18944, NA19063, NA18571, HG00422, HG00693, NA18532, NA18549, NA18574, HG00473, NA19079, NA19087, NA18555, NA19065, NA19058, NA18980
Known GenesPPP2R2B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672689
Frequency
Sample Size1151
Observed Gain0
Observed Loss89
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer