A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747979



Internal ID9982263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:108709387..108710093hg38UCSC Ensembl
Outerchr13:109361735..109362441hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg38707
hg19707
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6831521, essv6812372, essv6775894, essv6747003, essv6940784, essv6681793, essv6885221, essv6971047, essv6857550, essv6752722, essv6836320, essv6806542, essv6959622, essv6735042, essv6741273, essv6772274, essv6815631, essv6851548, essv6862639, essv6768661, essv6720894, essv6867429, essv6928094, essv6735330, essv6977623, essv6691782, essv6765892, essv6867687, essv6953451, essv6688452, essv6945178, essv6835063, essv6909094, essv6792056, essv6706398, essv6870878, essv6897803, essv6846112, essv6912813, essv6894845, essv6803645, essv6717003
SamplesSSM036, SSM011, SSM064, SSM065, SSM087, SSM073, SSM074, SSM088, SSM057, SSM023, SSM028, SSM090, SSM029, SSM026, SSM089, SSM019, SSM035, SSM003, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM085, SSM081, SSM040, SSM082, SSM015, SSM077, SSM076, SSM010, SSM055, SSM070, SSM095, SSM025, SSM099, SSM043, SSM052, SSM098, SSM049, SSM063
Known GenesMYO16
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)esv2747979
Frequency
Sample Size96
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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