A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747975



Internal ID9982259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:108256752..108796958hg38UCSC Ensembl
Outerchr13:108909100..109449306hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg38540207
hg19540207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6831521, essv6812372, essv6800427, essv6775894, essv6747003, essv6953449, essv6940784, essv6809558, essv6720893, essv6681793, essv6885221, essv6971047, essv6857550, essv6752721, essv6685274, essv6673500, essv6752722, essv6792054, essv6836320, essv6806542, essv6959622, essv6741272, essv6807654, essv6735042, essv6741273, essv6876828, essv6772274, essv6928093, essv6815631, essv6851548, essv6846111, essv6862639, essv6768661, essv6720894, essv6673501, essv6867429, essv6928094, essv6735330, essv6698912, essv6924548, essv6977623, essv6691782, essv6765892, essv6867687, essv6783769, essv6953451, essv6688452, essv6900783, essv6945178, essv6959621, essv6835063, essv6909094, essv6792056, essv6706398, essv6870878, essv6741271, essv6897803, essv6846112, essv6912813, essv6894845, essv6803645, essv6966143, essv6717003
SamplesSSM100, SSM036, SSM027, SSM075, SSM011, SSM064, SSM065, SSM087, SSM038, SSM009, SSM073, SSM074, SSM088, SSM057, SSM023, SSM028, SSM092, SSM090, SSM018, SSM029, SSM026, SSM089, SSM019, SSM035, SSM003, SSM031, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM015, SSM077, SSM076, SSM010, SSM055, SSM070, SSM095, SSM025, SSM034, SSM099, SSM043, SSM052, SSM098, SSM049, SSM063
Known GenesMYO16, TNFSF13B
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)esv2747975
Frequency
Sample Size96
Observed Gain0
Observed Loss53
Observed Complex0
Frequencyn/a


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