A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716136



Internal ID9950423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:67858775..68217422hg38UCSC Ensembl
Outerchr17:65854891..66213563hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38358648
hg19358673
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6713634, essv6925028, essv6971597, essv6678531, essv6682246, essv6756082, essv6729008, essv6936955, essv6703201, essv6772798, essv6706861, essv6692202, essv6806902, essv6738383, essv6843200, essv6925027, essv6944741, essv6735624, essv6945762, essv6839348, essv6721390, essv6941113, essv6949839, essv6846494, essv6901964, essv6665874, essv6960478, essv6966959, essv6668567, essv6932652, essv6796778, essv6784325, essv6780172, essv6936956, essv6872043, essv6954014, essv6778332, essv6920970, essv6788511, essv6778354, essv6744496, essv6761466, essv6832001, essv6732870, essv6792601, essv6741648, essv6800996, essv6913337, essv6717536
SamplesSSM065, SSM022, SSM027, SSM053, SSM036, SSM033, SSM084, SSM061, SSM042, SSM040, SSM043, SSM025, SSM072, SSM020, SSM071, SSM032, SSM039, SSM024, SSM067, SSM083, SSM050, SSM012, SSM085, SSM017, SSM011, SSM028, SSM029, SSM003, SSM030, SSM047, SSM069, SSM021, SSM046, SSM023, SSM052, SSM068, SSM044, SSM074, SSM015, SSM026, SSM049, SSM008, SSM018, SSM058, SSM081, SSM070
Known GenesBPTF, C17orf58, KPNA2, LINC00674, LOC440461
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)esv2716136
Frequency
Sample Size96
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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