A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2722484

Internal ID9956784
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:212297792..212299294hg38UCSC Ensembl
Outerchr1:212471134..212472636hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6729781, essv6747919, essv6864158, essv6738972, essv6785157, essv6821342, essv6933473, essv6825147, essv6745072, essv6817998, essv6886104, essv6750738, essv6756670, essv6871848, essv6804545, essv6722152, essv6845310, essv6847283, essv6917601, essv6666992, essv6789323, essv6726008, essv6868850, essv6680820, essv6955002, essv6689405, essv6714406, essv6813306, essv6883381, essv6786076, essv6704001, essv6889150, essv6898746, essv6675363, essv6906267, essv6853481, essv6759190, essv6696887, essv6844022, essv6710740, essv6880549, essv6718310, essv6859382, essv6877789, essv6910214, essv6736108, essv6692946, essv6807515, essv6968108, essv6766673, essv6753639, essv6781045, essv6686293, essv6793468, essv6925843
SamplesSSM010, SSM086, SSM006, SSM036, SSM055, SSM091, SSM061, SSM042, SSM040, SSM043, SSM088, SSM089, SSM090, SSM064, SSM035, SSM071, SSM057, SSM001, SSM032, SSM045, SSM094, SSM050, SSM097, SSM077, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM028, SSM095, SSM030, SSM047, SSM069, SSM021, SSM037, SSM087, SSM046, SSM019, SSM096, SSM079, SSM052, SSM068, SSM044, SSM074, SSM075, SSM015, SSM026, SSM014, SSM058, SSM059, SSM070, SSM080
Known GenesPPP2R5A
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2722484
Sample Size96
Observed Gain0
Observed Loss55
Observed Complex0

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