A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627993



Internal ID6668137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125416040..125420495hg38UCSC Ensembl
Innerchr11:125416048..125420487hg38UCSC Ensembl
Outerchr11:125416032..125420503hg38UCSC Ensembl
chr11:125285936..125290391hg19UCSC Ensembl
Innerchr11:125285944..125290383hg19UCSC Ensembl
Outerchr11:125285928..125290399hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg384456
hg194456
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14302730, essv14302729, essv14302740, essv14302737, essv14302745, essv14302727, essv14302734, essv14302728, essv14302733, essv14302725, essv14302736, essv14302739, essv14302735, essv14302731, essv14302723, essv14302732, essv14302738, essv14302726, essv14302724, essv14302746, essv14302721, essv14302722, essv14302747, essv14302741, essv14302744, essv14302743, essv14302742
SamplesNA18861, NA18933, HG02549, NA20294, HG03301, NA19430, HG03452, NA19320, HG03376, HG02634, HG03451, HG03520, HG01247, HG02888, HG01989, NA20334, NA19332, HG02571, HG01894, HG01880, HG02570, HG03108, NA19116, HG03198, HG03259, HG03515, HG02610
Known GenesPKNOX2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627993
Frequency
Sample Size2504
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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