A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722484



Internal ID9956784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:212297792..212299294hg38UCSC Ensembl
Outerchr1:212471134..212472636hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381503
hg191503
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
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)esv2722484
Frequency
Sample Size96
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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