A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721520



Internal ID10305156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:222895469..222897949hg38UCSC Ensembl
Outerchr2:223760187..223762667hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg382481
hg192481
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6813561, essv6748125, essv6973214, essv6801960, essv6697324, essv6718590, essv6711024, essv6829424, essv6745283, essv6877995, essv6764471, essv6902958, essv6726299, essv6886315, essv6759394, essv6689685, essv6847760, essv6700125, essv6693291, essv6869070, essv6722299, essv6788388, essv6896161, essv6844262, essv6933790, essv6683233, essv6769985, essv6762113, essv6679620, essv6880731, essv6707667, essv6819965, essv6892727, essv6859752, essv6733790, essv6736338, essv6864536, essv6672599, essv6968445, essv6853946, essv6922229, essv6777378, essv6773870, essv6875066, essv6889414, essv6804768, essv6840424, essv6920707, essv6951023, essv6781369, essv6739229, essv6917907, essv6914368, essv6942332, essv6910517, essv6753869, essv6667128, essv6938135, essv6750948, essv6836624, essv6833010, essv6730049, essv6906602, essv6752631, essv6848054, essv6821628, essv6714686, essv6953906, essv6828598, essv6880754, essv6955543, essv6686540, essv6669729, essv6946960, essv6883588, essv6872071, essv6793772, essv6675656, essv6898982, essv6704246, essv6742496, essv6840819, essv6766869, essv6817139, essv6797949, essv6926082, essv6722434, essv6962305, essv6789636, essv6698531, essv6807745, essv6810666, essv6785495, essv6825494, essv6929578
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesACSL3
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2721520
Frequency
Sample Size96
Observed Gain0
Observed Loss95
Observed Complex0
Frequencyn/a


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