A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743888



Internal ID9978172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1076176..1076683hg38UCSC Ensembl
Outerchr11:1076176..1076827hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38508
hg19652
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6819467, essv6866882, essv6743878, essv6672841, essv6850867, essv6768348, essv6771876, essv6904727, essv6746678, essv6765652, essv6709855, essv6831115, essv6752428, essv6760810, essv6706033, essv6965460, essv6749530, essv6720501, essv6755389, essv6775537, essv6842260, essv6735048, essv6823431, essv6927759, essv6907274, essv6833421
SamplesSSM027, SSM064, SSM079, SSM065, SSM013, SSM002, SSM057, SSM058, SSM084, SSM061, SSM089, SSM019, SSM031, SSM044, SSM086, SSM066, SSM006, SSM081, SSM040, SSM078, SSM053, SSM010, SSM055, SSM049, SSM056, SSM063
Known GenesMUC2
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)esv2743888
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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