A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720407



Internal ID9954703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:95950110..95956556hg38UCSC Ensembl
Outerchr2:96615858..96622304hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg386447
hg196447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6729957, essv6902853, essv6748045, essv6726191, essv6922105, essv6689588, essv6756780, essv6892638, essv6667078, essv6751675, essv6762047, essv6736241, essv6955344, essv6938038, essv6721410, essv6906449, essv6777280, essv6801880, essv6722328, essv6675544, essv6950912, essv6829321, essv6683123, essv6807636, essv6810582, essv6825355, essv6917789, essv6871984, essv6669525, essv6836526, essv6844178, essv6968334, essv6813473, essv6751686, essv6821932, essv6789544, essv6779709, essv6853754, essv6953028, essv6874979, essv6697234, essv6781249, essv6962096, essv6929457, essv6846876, essv6769872, essv6883505, essv6840323, essv6832906, essv6819276, essv6693163, essv6710925, essv6942201, essv6847568, essv6972974, essv6889300, essv6787464, essv6859582, essv6880668, essv6879798, essv6844179, essv6667079, essv6780820, essv6919751, essv6766794, essv6787475, essv6671843, essv6773771, essv6785373, essv6868984, essv6797826, essv6864382, essv6704162, essv6914273
SamplesSSM059, SSM036, SSM008, SSM083, SSM027, SSM075, SSM045, SSM046, SSM011, SSM064, SSM065, SSM087, SSM038, SSM097, SSM013, SSM009, SSM073, SSM050, SSM042, SSM088, SSM002, SSM023, SSM028, SSM092, SSM084, SSM090, SSM047, SSM018, SSM069, SSM029, SSM062, SSM026, SSM089, SSM017, SSM094, SSM032, SSM003, SSM031, SSM067, SSM001, SSM014, SSM086, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM016, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM070, SSM095, SSM025, SSM034, SSM004, SSM098, SSM056, SSM030, SSM012
Known Genes
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)esv2720407
Frequency
Sample Size96
Observed Gain0
Observed Loss69
Observed Complex0
Frequencyn/a


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