A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748200



Internal ID10329170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:112845153..112845825hg38UCSC Ensembl
Outerchr13:113499467..113500139hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38673
hg19673
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6812386, essv6819988, essv6932096, essv6945204, essv6695797, essv6867451, essv6673538, essv6891470, essv6720916, essv6971072, essv6920441, essv6678042, essv6787997, essv6749848, essv6681810, essv6800455, essv6916328, essv6706411, essv6838837, essv6831543, essv6796257, essv6928111, essv6882496, essv6953469, essv6870890, essv6857574, essv6901377, essv6862657, essv6940929, essv6876842, essv6910084, essv6851571, essv6959666, essv6709688, essv6966172, essv6888169, essv6909102, essv6827960
SamplesSSM083, SSM071, SSM027, SSM087, SSM097, SSM088, SSM002, SSM041, SSM023, SSM028, SSM092, SSM090, SSM069, SSM096, SSM026, SSM089, SSM017, SSM019, SSM094, SSM032, SSM003, SSM031, SSM044, SSM014, SSM086, SSM033, SSM081, SSM040, SSM072, SSM020, SSM078, SSM016, SSM080, SSM037, SSM076, SSM025, SSM056, SSM012
Known GenesATP11A
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)esv2748200
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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