A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627991



Internal ID6668135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125205513..125215769hg38UCSC Ensembl
Innerchr11:125205513..125215769hg38UCSC Ensembl
Outerchr11:125205246..125216022hg38UCSC Ensembl
chr11:125075409..125085665hg19UCSC Ensembl
Innerchr11:125075409..125085665hg19UCSC Ensembl
Outerchr11:125075142..125085918hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3810257
hg1910257
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14302709, essv14302712, essv14302706, essv14302713, essv14302714, essv14302719, essv14302718, essv14302711, essv14302707, essv14302705, essv14302715, essv14302708, essv14302710, essv14302717, essv14302716
SamplesNA12489, HG01105, NA20535, NA06989, HG00117, HG01537, HG02221, HG01620, NA11933, NA20882, HG03781, HG00742, HG00255, HG03772, HG03771
Known GenesPKNOX2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627991
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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