A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745173



Internal ID10326143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:123681486..123682058hg38UCSC Ensembl
Outerchr11:123552194..123552766hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg38573
hg19573
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6831255, essv6857108, essv6862304, essv6908229, essv6977049, essv6673064, essv6737798, essv6894593, essv6944868, essv6806327, essv6851074, essv6791793, essv6746796, essv6845908, essv6842373, essv6867062
SamplesSSM087, SSM074, SSM088, SSM002, SSM023, SSM084, SSM029, SSM089, SSM031, SSM086, SSM085, SSM081, SSM007, SSM055, SSM070, SSM098
Known Genes
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)esv2745173
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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