A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749030



Internal ID9983314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:63239680..63242479hg38UCSC Ensembl
Outerchr1:63705351..63708150hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg382800
hg192800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6780927, essv6915706, essv6750639, essv6682861, essv6759088, essv6871746, essv6789200, essv6853296, essv6707294, essv6669554, essv6917481, essv6946535, essv6925731, essv6844199, essv6807408, essv6825024, essv6761880, essv6910093, essv6733517, essv6666928, essv6736005, essv6961632, essv6797498, essv6933349, essv6689297, essv6756583, essv6972432, essv6697017, essv6950596, essv6941835, essv6804265, essv6773480, essv6954814, essv6744977, essv6748954, essv6769568, essv6784976, essv6886011, essv6729666, essv6722041, essv6804437, essv6950609, essv6895877, essv6725886, essv6710634, essv6764196, essv6747817, essv6742180, essv6766581, essv6921772, essv6699638, essv6753535, essv6892358, essv6868745, essv6902580, essv6810371, essv6864003, essv6686184, essv6719209, essv6675240, essv6898637, essv6821228, essv6714287, essv6937724, essv6914031, essv6793338, essv6917118
SamplesSSM065, SSM022, SSM007, SSM027, SSM013, SSM053, SSM036, SSM055, SSM091, SSM061, SSM099, SSM042, SSM043, SSM089, SSM090, SSM064, SSM035, SSM025, SSM072, SSM071, SSM016, SSM057, SSM001, SSM032, SSM039, SSM024, SSM045, SSM050, SSM041, SSM062, SSM005, SSM100, SSM056, SSM017, SSM009, SSM011, SSM066, SSM029, SSM003, SSM030, SSM047, SSM021, SSM002, SSM034, SSM063, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM068, SSM074, SSM004, SSM075, SSM015, SSM026, SSM049, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM070, SSM080
Known GenesLINC00466
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)esv2749030
Frequency
Sample Size96
Observed Gain0
Observed Loss67
Observed Complex0
Frequencyn/a


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