A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305815



Internal ID14806077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111489655..111489656hg38UCSC Ensembl
Innerchr1:111489628..111489683hg38UCSC Ensembl
Outerchr1:111489627..111489684hg38UCSC Ensembl
chr1:112032277..112032278hg19UCSC Ensembl
Innerchr1:112032250..112032305hg19UCSC Ensembl
Outerchr1:112032249..112032306hg19UCSC Ensembl
chr1:111833800..111833801hg18UCSC Ensembl
Innerchr1:111833828..111833773hg18UCSC Ensembl
Outerchr1:111833772..111833829hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38299
hg19299
hg18299
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7757822, essv7753344, essv7752979, essv7752096, essv7743819, essv7751581, essv7751163, essv7758789, essv7756364, essv7756016, essv7748579, essv7747763, essv7761244, essv7757424, essv7747007, essv7756093, essv7749377, essv7754721, essv7750844, essv7743787, essv7745673, essv7742367, essv7757954, essv7762567, essv7753216, essv7756563, essv7741346, essv7748209, essv7749897, essv7745819, essv7742620, essv7748017
SamplesNA18947, NA18861, NA18592, NA18561, NA18603, NA18870, NA18563, NA18940, NA18519, NA18558, NA18638, NA18516, NA18871, NA18948, NA18537, NA19114, NA18912, NA18532, NA19099, NA18555, NA19225, NA18945, NA18608, NA07051, NA18943, NA18609, NA19102, NA18505, NA19129, NA18511, NA18562, NA18965
Known GenesADORA3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305815
Frequency
Sample Size185
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


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