A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749765



Internal ID10330735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:62413882..62415585hg38UCSC Ensembl
Outerchr15:62706081..62707784hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg381704
hg191704
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6974684, essv6820191, essv6942385, essv6772488, essv6732528, essv6924759, essv6792271, essv6862891, essv6824037, essv6744312, essv6953677, essv6688614, essv6702862, essv6949519, essv6911330, essv6940765, essv6735447, essv6749979, essv6837765, essv6936592, essv6835260, essv6724883, essv6699034, essv6901706, essv6668422, essv6932297, essv6803790, essv6796438, essv6761273, essv6882641, essv6800642, essv6779867, essv6775842, essv6806693, essv6885352, essv6678233, essv6706572, essv6869398, essv6809703, essv6873984, essv6909278, essv6928275, essv6812522, essv6747042, essv6916500, essv6681954, essv6846270, essv6788180, essv6768816, essv6897946, essv6728700, essv6721090, essv6867681, essv6971267, essv6713357, essv6755884, essv6900930, essv6895024, essv6763645, essv6691946, essv6905292, essv6839027, essv6741429, essv6696000, essv6828116, essv6891625, essv6871046, essv6766005, essv6747148, essv6945421, essv6685440, essv6831721, essv6776079, essv6842868, essv6876993, essv6851860, essv6741487
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM038, SSM097, SSM039, SSM013, SSM073, SSM074, SSM042, SSM088, SSM002, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM062, SSM089, SSM019, SSM035, SSM094, SSM032, SSM003, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM085, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM078, SSM016, SSM053, SSM080, SSM037, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, 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)esv2749765
Frequency
Sample Size96
Observed Gain0
Observed Loss77
Observed Complex0
Frequencyn/a


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