A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724760



Internal ID10308396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50227893..50228655hg38UCSC Ensembl
Outerchr22:50666322..50667084hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38763
hg19763
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6933146, essv6941620, essv6725693, essv6682711, essv6828866, essv6902395, essv6937521, essv6816458, essv6776797, essv6961273, essv6783421, essv6710471, essv6839828, essv6901501, essv6821035, essv6843748, essv6807269, essv6773316, essv6696875, essv6784826, essv6729476, essv6913857, essv6718030, essv6780704, essv6954547, essv6714102, essv6950383, essv6686049, essv6905988, essv6895723, essv6921580, essv6793137, essv6832441
SamplesSSM100, SSM008, SSM083, SSM024, SSM045, SSM046, SSM065, SSM013, SSM074, SSM042, SSM041, SSM084, SSM021, SSM026, SSM017, SSM067, SSM033, SSM066, SSM068, SSM081, SSM020, SSM015, SSM078, SSM080, SSM037, SSM077, SSM022, SSM070, SSM025, SSM034, SSM043, SSM098, SSM012
Known GenesTUBGCP6
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)esv2724760
Frequency
Sample Size96
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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