A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2723954

Internal ID9958254
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17801051..17801442hg38UCSC Ensembl
Outerchr22:18283817..18284208hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2723954
Sample Size96
Observed Gain0
Observed Loss43
Observed Complex0

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