A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3626060



Internal ID7012894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:40312801..40317327hg38UCSC Ensembl
Innerchr11:40312801..40317327hg38UCSC Ensembl
Outerchr11:40312478..40317585hg38UCSC Ensembl
chr11:40334351..40338877hg19UCSC Ensembl
Innerchr11:40334351..40338877hg19UCSC Ensembl
Outerchr11:40334028..40339135hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg384527
hg194527
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14103207, essv14103219, essv14103206, essv14103211, essv14103217, essv14103220, essv14103218, essv14103208, essv14103223, essv14103224, essv14103209, essv14103216, essv14103213, essv14103221, essv14103210, essv14103212, essv14103215, essv14103222, essv14103214
SamplesHG02944, HG02496, NA20294, HG02271, NA18916, HG02561, NA19707, HG02108, NA18879, NA19113, NA19035, HG03567, HG02255, HG03259, HG02814, HG03442, NA20334, NA19185, NA19004
Known GenesLRRC4C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3626060
Frequency
Sample Size2504
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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