A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716032



Internal ID10299668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:50349937..50350483hg38UCSC Ensembl
Outerchr17:48427298..48427844hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38547
hg19547
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6846485, essv6674294, essv6835555, essv6941101, essv6901145, essv6913326, essv6820481, essv6812725, essv6925019, essv6888560, essv6800987, essv6891847, essv6877201, essv6824324, essv6916796, essv6816048, essv6928526, essv6954004, essv6831984, essv6788500, essv6706849, essv6728996, essv6703190, essv6796766, essv6966942, essv6885541, essv6863206, essv6692193, essv6678525, essv6868016, essv6882829, essv6809912, essv6806897, essv6843190, essv6909525, essv6871244, essv6732855, essv6852303, essv6688851, essv6665854, essv6717526, essv6858280, essv6744489, essv6804000, essv6784315, essv6839335, essv6682238, essv6944663, essv6901955, essv6828393, essv6685652, essv6945753, essv6874181, essv6699208, essv6949826, essv6725195, essv6895279, essv6678524, essv6696307, essv6691854, essv6932635, essv6780158, essv6776367, essv6879986, essv6713624, essv6960459, essv6811610, essv6721380
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM079, SSM087, SSM038, SSM097, SSM039, SSM009, SSM073, SSM093, SSM074, SSM042, SSM088, SSM023, SSM092, SSM084, SSM090, SSM047, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM095, SSM025, SSM034, SSM043, SSM098, SSM012
Known GenesXYLT2
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)esv2716032
Frequency
Sample Size96
Observed Gain0
Observed Loss67
Observed Complex0
Frequencyn/a


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