A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715902



Internal ID9950189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:39498869..39499240hg38UCSC Ensembl
Outerchr17:37655122..37655493hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38372
hg19372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6871853, essv6945731, essv6976783, essv6803979, essv6674268, essv6812705, essv6743465, essv6732837, essv6839318, essv6824304, essv6721355, essv6820460, essv6863186, essv6966914, essv6728971, essv6703163, essv6806880, essv6831968, essv6682219, essv6725171, essv6776346, essv6888541, essv6809892, essv6895258, essv6960428, essv6882813, essv6699187, essv6858250, essv6898123, essv6788479, essv6835533, essv6874159, essv6867992, essv6696285, essv6784295, essv6885527, essv6691710, essv6843169, essv6852271, essv6909505, essv6949804, essv6665818, essv6924993, essv6932617, essv6769024, essv6688838, essv6706826
SamplesSSM007, SSM027, SSM082, SSM086, SSM091, SSM033, SSM084, SSM099, SSM040, SSM078, SSM088, SSM089, SSM064, SSM031, SSM035, SSM020, SSM039, SSM024, SSM045, SSM094, SSM083, SSM005, SSM011, SSM066, SSM029, SSM095, SSM047, SSM073, SSM069, SSM037, SSM087, SSM038, SSM046, SSM096, SSM023, SSM079, SSM068, SSM044, SSM074, SSM004, SSM075, SSM026, SSM014, SSM098, SSM018, SSM076, SSM081
Known GenesCDK12
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)esv2715902
Frequency
Sample Size96
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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