A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716844



Internal ID10300480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:14822873..14823315hg38UCSC Ensembl
Outerchr18:14822872..14823314hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38443
hg19443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6905641, essv6725276, essv6977528, essv6776447, essv6772868, essv6945847, essv6696402, essv6769103, essv6882876, essv6792673, essv6928593, essv6761508, essv6788578, essv6804057, essv6717614, essv6713699, essv6902017, essv6891894, essv6809962, essv6747378, essv6971664, essv6699259, essv6766207, essv6863288, essv6780244, essv6872464, essv6898200, essv6885593, essv6715687, essv6801067, essv6839406, essv6710141, essv6756129, essv6858385, essv6682323, essv6921054, essv6784398, essv6741714, essv6941193, essv6806953, essv6832061, essv6729077, essv6888612, essv6666006, essv6880044, essv6828467, essv6763865, essv6871291, essv6753110, essv6750213, essv6824404, essv6738427, essv6868100, essv6721460, essv6692388, essv6668606, essv6901189, essv6744288, essv6767709, essv6874243, essv6779044, essv6852421, essv6913396, essv6949922, essv6674401, essv6732939, essv6932720, essv6692253, essv6685700, essv6703274, essv6843271, essv6840098, essv6820572, essv6744545, essv6916868, essv6895344, essv6735668, essv6835627, essv6945396, essv6796855, essv6812288, essv6967068, essv6812773, essv6846538, essv6937024, essv6758733, essv6954088, essv6877259
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM069, SSM061, SSM029, SSM096, SSM062, SSM089, SSM017, SSM019, SSM094, SSM003, SSM031, SSM067, SSM044, SSM001, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM072, SSM082, SSM020, SSM007, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesANKRD30B
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)esv2716844
Frequency
Sample Size96
Observed Gain0
Observed Loss88
Observed Complex0
Frequencyn/a


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