A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590202



Internal ID6977531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30605843..30609353hg38UCSC Ensembl
Innerchr2:30605843..30609353hg38UCSC Ensembl
Outerchr2:30605772..30609428hg38UCSC Ensembl
chr2:30828709..30832219hg19UCSC Ensembl
Innerchr2:30828709..30832219hg19UCSC Ensembl
Outerchr2:30828638..30832294hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg383511
hg193511
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10442245, essv10442225, essv10442232, essv10442222, essv10442242, essv10442224, essv10442216, essv10442230, essv10442239, essv10442250, essv10442235, essv10442247, essv10442215, essv10442236, essv10442221, essv10442246, essv10442252, essv10442227, essv10442214, essv10442248, essv10442244, essv10442251, essv10442223, essv10442238, essv10442241, essv10442217, essv10442253, essv10442240, essv10442228, essv10442220, essv10442234, essv10442231, essv10442254, essv10442233, essv10442229, essv10442219, essv10442243, essv10442249, essv10442237, essv10442255, essv10442226, essv10442218
SamplesHG03960, NA21127, HG04158, HG01586, HG03589, HG03668, HG03616, HG03018, NA20863, HG02688, HG04156, HG03837, HG03770, HG04022, NA20850, NA20890, HG03937, HG03234, HG02493, HG04106, HG03746, NA20889, HG03884, HG00133, NA20892, HG04062, NA21119, HG03928, HG03740, HG02219, HG01589, HG03743, HG02651, HG03702, NA20888, HG04209, NA21093, HG03998, HG04171, HG04056, HG03931, HG01583
Known GenesLCLAT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590202
Frequency
Sample Size2504
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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