A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716388



Internal ID10300024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:80601514..80602493hg38UCSC Ensembl
Outerchr17:78575314..78576293hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38980
hg19980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6888578, essv6928556, essv6885565, essv6764708, essv6812742, essv6776407, essv6944907, essv6945793, essv6747346, essv6741665, essv6809931, essv6877225, essv6761476, essv6920996, essv6721407, essv6858321, essv6977139, essv6954037, essv6692218, essv6717558, essv6863237, essv6839369, essv6678550, essv6843217, essv6732888, essv6801018, essv6925055, essv6778576, essv6880012, essv6763837, essv6913356, essv6735636, essv6909553, essv6682267, essv6949864, essv6753077, essv6828430, essv6696345, essv6744511, essv6816075, essv6796799, essv6941141, essv6772822, essv6882848, essv6766181, essv6852360, essv6703223, essv6788527, essv6758694, essv6891869, essv6874204
SamplesSSM059, SSM036, SSM008, SSM083, SSM071, SSM024, SSM075, SSM065, SSM087, SSM097, SSM039, SSM093, SSM088, SSM057, SSM023, SSM092, SSM084, SSM047, SSM018, SSM069, SSM061, SSM096, SSM062, SSM017, SSM019, SSM094, SSM032, SSM003, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM072, SSM015, SSM053, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM055, SSM095, SSM025, SSM004, SSM043, SSM052, SSM049, SSM063
Known GenesRPTOR
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)esv2716388
Frequency
Sample Size96
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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