A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716815



Internal ID10300451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:12851168..12851629hg38UCSC Ensembl
Outerchr18:12851167..12851628hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38462
hg19462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6928588, essv6820569, essv6806952, essv6835624, essv6816118, essv6779021, essv6905635, essv6792669, essv6880039, essv6729073, essv6913400, essv6916862, essv6812769, essv6913385, essv6788574, essv6717609, essv6832057, essv6877256, essv6949916, essv6921046, essv6868095, essv6735661, essv6678596, essv6895341, essv6668604, essv6809961, essv6685696, essv6852413, essv6753108, essv6758729, essv6846530, essv6932717, essv6971657, essv6945842, essv6901186, essv6977495, essv6941188, essv6909581, essv6776443, essv6888610, essv6882872, essv6756127, essv6796851, essv6863284, essv6721455, essv6858383, essv6750207, essv6967062, essv6666002, essv6843268, essv6766206, essv6824401, essv6784394, essv6732936, essv6874239, essv6699256, essv6688895, essv6725271, essv6747373, essv6804053, essv6715665, essv6898197, essv6703268, essv6696397, essv6937019, essv6767264, essv6769099, essv6741710, essv6713692, essv6828458, essv6738425, essv6872431, essv6812254, essv6761505, essv6954081, essv6871289, essv6885590, essv6839402, essv6801063, essv6710138, essv6682318, essv6772865, essv6960594, essv6780239, essv6902015, essv6674396
SamplesSSM100, SSM059, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM069, SSM061, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM072, SSM082, SSM020, SSM015, SSM078, SSM016, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesPTPN2
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)esv2716815
Frequency
Sample Size96
Observed Gain0
Observed Loss86
Observed Complex0
Frequencyn/a


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