A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723954



Internal ID9958254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17801051..17801442hg38UCSC Ensembl
Outerchr22:18283817..18284208hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38392
hg19392
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6801405, essv6898446, essv6824738, essv6750457, essv6954454, essv6685977, essv6776731, essv6972023, essv6868513, essv6895648, essv6874528, essv6725602, essv6788906, essv6828796, essv6852899, essv6961133, essv6839749, essv6948374, essv6746909, essv6810197, essv6820967, essv6780597, essv6678942, essv6692547, essv6807212, essv6797207, essv6913758, essv6871554, essv6733269, essv6747636, essv6946233, essv6717937, essv6928870, essv6793026, essv6710401, essv6950284, essv6858877, essv6921469, essv6933054, essv6846802, essv6863713, essv6888845, essv6804262
SamplesSSM007, SSM086, SSM036, SSM055, SSM091, SSM099, SSM078, SSM043, SSM088, SSM089, SSM090, SSM025, SSM072, SSM020, SSM071, SSM032, SSM024, SSM045, SSM067, SSM083, SSM041, SSM056, SSM085, SSM017, SSM066, SSM028, SSM003, SSM047, SSM073, SSM069, SSM034, SSM087, SSM019, SSM096, SSM023, SSM079, SSM074, SSM075, SSM015, SSM026, SSM098, SSM070, SSM080
Known GenesMICAL3
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)esv2723954
Frequency
Sample Size96
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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