A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589066



Internal ID6976483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229099964..229107315hg38UCSC Ensembl
chr1:229235711..229243062hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg387352
hg197352
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10314071, essv10314066, essv10314072, essv10314067, essv10314064, essv10314058, essv10314068, essv10314074, essv10314070, essv10314057, essv10314065, essv10314076, essv10314075, essv10314062, essv10314063, essv10314069, essv10314059, essv10314060, essv10314061, essv10314077, essv10314073
SamplesNA20766, HG03837, HG03645, NA19723, HG03762, HG03887, HG01072, NA19789, HG01164, HG01183, HG01271, HG01092, HG01536, HG02787, HG03625, HG03971, HG03694, HG04080, HG03729, HG03863, NA20852
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589066
Frequency
Sample Size2504
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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