A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627113



Internal ID7013943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:87042717..87045535hg38UCSC Ensembl
Innerchr11:87042717..87045535hg38UCSC Ensembl
Outerchr11:87042453..87045783hg38UCSC Ensembl
chr11:86753759..86756577hg19UCSC Ensembl
Innerchr11:86753759..86756577hg19UCSC Ensembl
Outerchr11:86753495..86756825hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg382819
hg192819
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14223516, essv14223525, essv14223512, essv14223524, essv14223517, essv14223519, essv14223508, essv14223521, essv14223518, essv14223513, essv14223520, essv14223514, essv14223515, essv14223522, essv14223523, essv14223511, essv14223510, essv14223509
SamplesHG02628, NA19204, HG02012, HG02476, HG03577, HG03133, HG02541, HG02471, HG03380, HG03055, NA18933, HG02554, HG02307, NA19774, NA18909, HG02923, NA19213, NA19146
Known GenesTMEM135
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627113
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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