A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721284



Internal ID10304920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:199469572..199471096hg38UCSC Ensembl
Outerchr1:199438700..199440224hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381525
hg191525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6759179, essv6821328, essv6883368, essv6686281, essv6697100, essv6675352, essv6714393, essv6756660, essv6889146, essv6871833, essv6954983, essv6921887, essv6785145, essv6832724, essv6840104, essv6673042, essv6845187, essv6933456, essv6961787, essv6801745, essv6710729, essv6789307, essv6745062, essv6902678, essv6868840, essv6747908, essv6670399, essv6696776, essv6918007, essv6804533, essv6689392, essv6761948, essv6950701, essv6874828, essv6929213, essv6864145, essv6886096, essv6682956, essv6925825, essv6813298, essv6785943, essv6753629, essv6766662, essv6725999, essv6892461, essv6853462, essv6877778, essv6917587, essv6777075, essv6880544, essv6910200, essv6972622, essv6719932, essv6816772, essv6738959, essv6692930, essv6941961, essv6859369, essv6898737, essv6793452, essv6769669, essv6764275, essv6750725, essv6844007, essv6951551, essv6836326, essv6773588, essv6699763, essv6825136, essv6895968, essv6749898, essv6669195, essv6679322, essv6878065, essv6722137, essv6847258, essv6729768, essv6968092, essv6817920, essv6742269, essv6797608, essv6707391, essv6666984, essv6937821, essv6736095, essv6733602, essv6810932, essv6914113, essv6829145, essv6807501, essv6718294, essv6703986, essv6810452, essv6781031, essv6946631
SamplesSSM100, SSM059, 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, 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 Genes
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)esv2721284
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