A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586702



Internal ID6627012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:86599279..86630282hg38UCSC Ensembl
chr1:87064962..87095965hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3831004
hg1931004
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10008257, essv10008259, essv10008270, essv10008256, essv10008268, essv10008275, essv10008273, essv10008269, essv10008272, essv10008261, essv10008266, essv10008262, essv10008271, essv10008276, essv10008264, essv10008263, essv10008260, essv10008253, essv10008255, essv10008278, essv10008265, essv10008254, essv10008258, essv10008277, essv10008267, essv10008274
SamplesHG00524, HG01855, HG02383, HG03937, HG00634, HG02278, HG01813, NA18748, HG02047, HG00629, HG02090, HG01979, HG01948, HG02364, HG00690, HG02086, HG00704, HG02408, HG01933, HG02019, HG01861, HG00707, HG00513, HG02401, HG02116, HG01600
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586702
Frequency
Sample Size2504
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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