A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723346



Internal ID9957646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:32771515..32772270hg38UCSC Ensembl
Outerchr21:34143826..34144581hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38756
hg19756
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6843791, essv6692657, essv6859059, essv6895761, essv6839857, essv6797333, essv6801527, essv6729518, essv6784868, essv6885916, essv6832479, essv6696914, essv6853083, essv6793178, essv6949396, essv6695253, essv6906028, essv6810280, essv6714133, essv6877612, essv6846897, essv6901537, essv6871646, essv6682750, essv6776829, essv6747665, essv6699522, essv6941667, essv6718060, essv6816087, essv6796264, essv6733398, essv6928967, essv6679053, essv6725737, essv6967778, essv6675082, essv6961345, essv6780744, essv6750533, essv6742074, essv6843188, essv6950432, essv6761804, essv6921616, essv6824864, essv6880361, essv6710502, essv6773340, essv6954581, essv6783754, essv6916118, essv6874632, essv6892226, essv6868637, essv6789025, essv6747717, essv6707196, essv6668611, essv6807304, essv6863836, essv6933191, essv6888934, essv6946377, essv6917324, essv6972179, essv6721886, essv6902433, essv6703746
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM093, SSM074, SSM042, SSM088, SSM002, SSM041, SSM023, SSM028, SSM092, SSM084, SSM090, SSM047, SSM069, SSM061, SSM096, SSM026, SSM089, SSM017, SSM019, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM020, SSM007, SSM016, SSM005, SSM037, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM004, SSM043, SSM052, SSM098, SSM056, SSM012
Known GenesC21orf49, PAXBP1
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)esv2723346
Frequency
Sample Size96
Observed Gain0
Observed Loss69
Observed Complex0
Frequencyn/a


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