A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723714



Internal ID9958014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45108326..45109035hg38UCSC Ensembl
Outerchr21:46528241..46528950hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38710
hg19710
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6836103, essv6725769, essv6689208, essv6933230, essv6871671, essv6789056, essv6695388, essv6859106, essv6692685, essv6718089, essv6773372, essv6682779, essv6946419, essv6666850, essv6824900, essv6769445, essv6961409, essv6797368, essv6807330, essv6843377, essv6679082, essv6714164, essv6972222, essv6874657, essv6906057, essv6885937, essv6937598, essv6675133, essv6668810, essv6901553, essv6828936, essv6703785, essv6780780, essv6898562, essv6776851, essv6729545, essv6699544, essv6707219, essv6921652, essv6954624, essv6853132, essv6742099, essv6949695, essv6967831, essv6843830, essv6925624, essv6895792, essv6877631, essv6902459, essv6941710, essv6801566, essv6913932, essv6839890, essv6696948, essv6816519, essv6928997, essv6876219, essv6846921, essv6784913, essv6793214, essv6747876, essv6747736, essv6950463, essv6832513, essv6784076, essv6710527, essv6733437
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM082, SSM086, SSM036, SSM055, SSM091, SSM033, SSM084, SSM099, SSM042, SSM040, SSM043, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM032, SSM039, SSM024, SSM045, SSM067, SSM083, SSM041, SSM077, SSM005, SSM012, SSM100, SSM085, SSM017, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM047, SSM069, SSM021, SSM037, SSM087, SSM038, SSM046, SSM019, SSM023, SSM079, SSM052, SSM068, SSM074, SSM004, SSM015, SSM026, SSM008, SSM098, SSM018, SSM081, SSM070, SSM080
Known GenesADARB1
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)esv2723714
Frequency
Sample Size96
Observed Gain0
Observed Loss67
Observed Complex0
Frequencyn/a


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