A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627837



Internal ID6667981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:116865108..116866442hg38UCSC Ensembl
Innerchr11:116865110..116866441hg38UCSC Ensembl
Outerchr11:116865107..116866444hg38UCSC Ensembl
chr11:116735824..116737158hg19UCSC Ensembl
Innerchr11:116735826..116737157hg19UCSC Ensembl
Outerchr11:116735823..116737160hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381335
hg191335
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14292120, essv14292114, essv14292116, essv14292112, essv14292118, essv14292117, essv14292115, essv14292109, essv14292110, essv14292113, essv14292107, essv14292108, essv14292111, essv14292119
SamplesHG01168, NA20795, NA12348, HG00355, NA12489, NA20858, NA20760, HG01334, HG00146, HG03238, NA20773, HG00254, NA19780, HG01061
Known GenesSIK3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627837
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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