A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745146



Internal ID10326116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:120516941..120517651hg38UCSC Ensembl
Outerchr11:120387650..120388360hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38711
hg19711
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6834827, essv6949024, essv6677751, essv6953157, essv6809319, essv6702385, essv6763340, essv6819622, essv6795969, essv6927868, essv6716725, essv6686832
SamplesSSM071, SSM024, SSM075, SSM039, SSM062, SSM019, SSM032, SSM082, SSM078, SSM005, SSM025, SSM043
Known GenesGRIK4
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)esv2745146
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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