A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749958



Internal ID10330928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:82882852..82888906hg38UCSC Ensembl
Outerchr15:83551604..83557658hg19UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg386055
hg196055
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6877008, essv6792292, essv6815828, essv6940782, essv6885361, essv6936613, essv6668436, essv6755902, essv6673874, essv6928291, essv6879799, essv6752876, essv6713710, essv6974873, essv6900949, essv6871064, essv6869642, essv6699050, essv6784007, essv6741609, essv6820224, essv6920663, essv6735466, essv6761288, essv6717225, essv6888331, essv6942573, essv6681971, essv6691960, essv6772507, essv6758526, essv6874002, essv6738206, essv6867720, essv6713375, essv6895040, essv6706591, essv6744329, essv6665364, essv6728720, essv6796457, essv6837898, essv6812537, essv6678256, essv6835281, essv6709850, essv6749994, essv6842887, essv6732542, essv6911452, essv6916514, essv6768830, essv6776019, essv6851905, essv6806712, essv6721108, essv6932319, essv6690188, essv6696017, essv6909304, essv6882658, essv6766026, essv6688634, essv6862929, essv6828137, essv6857905, essv6803803, essv6809564, essv6897963, essv6953700, essv6949541, essv6901727, essv6846281, essv6741456, essv6831737, essv6905322, essv6788204, essv6702888, essv6724900, essv6763657, essv6891645, essv6779889, essv6809725, essv6685460, essv6800670, essv6824062, essv6966500, essv6960009, essv6913014, essv6971284
SamplesSSM100, SSM059, SSM036, SSM008, 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, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM014, SSM086, SSM033, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesHOMER2
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)esv2749958
Frequency
Sample Size96
Observed Gain0
Observed Loss90
Observed Complex0
Frequencyn/a


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