A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722310



Internal ID9956609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:23771157..23858223hg38UCSC Ensembl
Outerchr20:23751794..23838860hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3887067
hg1987067
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6693166, essv6772988, essv6858568, essv6666231, essv6773375, essv6871371, essv6925208, essv6832165, essv6913531, essv6813199, essv6839517, essv6921167, essv6753205, essv6780366, essv6895447, essv6766263, essv6784524, essv6735747, essv6713812, essv6820721, essv6843386, essv6858567, essv6780166, essv6843385, essv6971779, essv6905731, essv6745176, essv6813177, essv6835735, essv6804140, essv6909699, essv6902116, essv6780367, essv6868243, essv6916967, essv6932844, essv6784523, essv6885667, essv6937150, essv6913529, essv6804141, essv6846612, essv6846608, essv6913532, essv6954212, essv6820718, essv6706919, essv6885666, essv6945998, essv6950035, essv6839518, essv6828591, essv6913528, essv6905732, essv6954211, essv6801193, essv6932843, essv6820719, essv6666229, essv6835736, essv6967258, essv6780155, essv6946296, essv6692358, essv6950034, essv6721572, essv6745154
SamplesSSM036, SSM008, SSM083, SSM027, SSM024, SSM065, SSM087, SSM013, SSM009, SSM073, SSM042, SSM057, SSM023, SSM028, SSM084, SSM090, SSM021, SSM018, SSM029, SSM089, SSM017, SSM003, SSM067, SSM044, SSM001, SSM014, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM005, SSM080, SSM095, SSM025, SSM098, SSM049, SSM063, SSM012
Known GenesCST2
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)esv2722310
Frequency
Sample Size96
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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