A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722598



Internal ID9956898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:57189985..57190848hg38UCSC Ensembl
Outerchr20:55765041..55765904hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38864
hg19864
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6775819, essv6916994, essv6846634, essv6756236, essv6665933, essv6871392, essv6858607, essv6877358, essv6784556, essv6813443, essv6706947, essv6946030, essv6914174, essv6971810, essv6841054, essv6898291, essv6937180, essv6678759, essv6816227, essv6885684, essv6874343, essv6761596, essv6741822, essv6810068, essv6902146, essv6788726, essv6925238, essv6839540, essv6682447, essv6804167, essv6950061, essv6710273, essv6792837, essv6725419, essv6717738, essv6863478, essv6888700, essv6769197, essv6674638, essv6666275, essv6882977, essv6921194, essv6753223, essv6733069, essv6835761, essv6901308, essv6941335, essv6692374, essv6967299, essv6852671, essv6801211, essv6913567, essv6932865, essv6832182, essv6693365, essv6713834, essv6685833, essv6776584, essv6905757, essv6880141, essv6960843, essv6824549, essv6895466, essv6828616, essv6928717, essv6699348, essv6745377, essv6773020, essv6868278, essv6729207, essv6797014, essv6721607, essv6696569, essv6807058, essv6747478, essv6954242
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM064, SSM079, SSM065, SSM087, SSM038, SSM013, SSM009, SSM073, SSM093, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM094, SSM032, SSM031, SSM044, SSM001, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM016, SSM005, SSM080, SSM037, SSM077, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM012
Known GenesBMP7
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)esv2722598
Frequency
Sample Size96
Observed Gain0
Observed Loss76
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer