A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716888



Internal ID10300524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:26991643..26992361hg38UCSC Ensembl
Outerchr18:24571607..24572325hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38719
hg19719
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6913410, essv6832064, essv6750219, essv6905645, essv6916873, essv6898205, essv6699263, essv6735672, essv6715710, essv6877263, essv6756133, essv6703280, essv6732946, essv6871297, essv6891899, essv6967071, essv6868104, essv6812777, essv6804062, essv6744332, essv6902022, essv6692258, essv6685707, essv6954090, essv6843275, essv6717618, essv6769104, essv6801072, essv6945440, essv6753115, essv6816124, essv6971666, essv6945855, essv6713703, essv6913429, essv6812354, essv6874246, essv6692443, essv6937026, essv6828471, essv6809965, essv6840154, essv6788583, essv6872531, essv6941200, essv6796858, essv6784403, essv6772874, essv6806957, essv6846542, essv6725281, essv6780249, essv6882879, essv6820577, essv6888615, essv6768042, essv6678604, essv6932725, essv6776450, essv6696406, essv6880048, essv6925109, essv6921057, essv6901193, essv6744548, essv6977539, essv6852427, essv6824406, essv6839411
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM075, SSM045, SSM011, SSM064, SSM079, SSM065, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM074, SSM042, SSM002, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM096, SSM089, SSM017, SSM094, SSM032, SSM003, SSM067, SSM001, SSM086, SSM066, SSM006, SSM085, SSM068, SSM081, SSM072, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM025, SSM034, SSM004, SSM099, SSM043, SSM049, SSM056, SSM012
Known GenesCHST9
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)esv2716888
Frequency
Sample Size96
Observed Gain0
Observed Loss69
Observed Complex0
Frequencyn/a


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