A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743906



Internal ID9978190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1255624..1256019hg38UCSC Ensembl
Outerchr11:1276854..1277249hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38396
hg19396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6758084, essv6735049, essv6709866, essv6716603, essv6804166, essv6760812, essv6976796, essv6755390, essv6736909, essv6740892, essv6771881, essv6935921
SamplesSSM059, SSM065, SSM009, SSM058, SSM021, SSM061, SSM029, SSM006, SSM007, SSM043, SSM052, SSM049
Known GenesMUC5B
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)esv2743906
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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