A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720024



Internal ID9954320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:47426533..47427323hg38UCSC Ensembl
Outerchr2:47653672..47654462hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38791
hg19791
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6946799, essv6722296, essv6729919, essv6879464, essv6832860, essv6748015, essv6859533, essv6864329, essv6671554, essv6952762, essv6693123, essv6736212, essv6785329, essv6853691, essv6689547, essv6807605, essv6756756, essv6679479, essv6801846, essv6955276, essv6929412, essv6902816, essv6704124, essv6825313, essv6742381, essv6836486, essv6721066, essv6896056, essv6683084, essv6777241, essv6789496, essv6950868, essv6745161, essv6847502, essv6922057, essv6739085, essv6667059, essv6844134, essv6910375, essv6942156, essv6868949, essv6750829, essv6874951, essv6871951, essv6933639, essv6697197, essv6813436, essv6773737, essv6877873, essv6883472, essv6753743, essv6759291, essv6886209, essv6766768, essv6675503, essv6937995, essv6968287, essv6669466, essv6919440, essv6769846, essv6726146, essv6707544, essv6793619, essv6718463, essv6840281, essv6962035, essv6751320, essv6917749, essv6797782, essv6818965, essv6787109, essv6710884, essv6714556, essv6781209, essv6972898, essv6821481
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM036, SSM055, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM040, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM025, SSM072, SSM020, SSM071, SSM057, SSM032, SSM024, SSM045, SSM067, SSM083, SSM050, SSM041, SSM077, SSM005, SSM012, SSM093, SSM056, SSM085, SSM017, SSM009, SSM066, SSM028, SSM029, SSM003, SSM095, SSM030, SSM047, SSM073, SSM069, SSM021, SSM037, SSM034, SSM087, SSM038, SSM046, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM004, SSM075, SSM015, SSM026, SSM008, SSM018, SSM058, SSM059, SSM070, SSM080
Known GenesMSH2
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)esv2720024
Frequency
Sample Size96
Observed Gain0
Observed Loss76
Observed Complex0
Frequencyn/a


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