A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3436296



Internal ID15283249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:58739625..58739639hg38UCSC Ensembl
Innerchr1:58739616..58739646hg38UCSC Ensembl
Outerchr1:58739602..58739660hg38UCSC Ensembl
chr1:59205297..59205311hg19UCSC Ensembl
Innerchr1:59205288..59205318hg19UCSC Ensembl
Outerchr1:59205274..59205332hg19UCSC Ensembl
chr1:58977885..58977899hg18UCSC Ensembl
Innerchr1:58977906..58977876hg18UCSC Ensembl
Outerchr1:58977862..58977920hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38263
hg19263
hg18263
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8899033, essv8899042, essv8899045, essv8899041, essv8899025, essv8899039, essv8899050, essv8899031, essv8899047, essv8899038, essv8899049, essv8899036, essv8899035, essv8899046, essv8899027, essv8899032, essv8899029, essv8899051, essv8899043, essv8899030, essv8899044, essv8899034, essv8899040, essv8899028
SamplesNA18561, NA11920, NA19190, NA18916, NA11992, NA18582, NA12287, NA11994, NA18520, NA10847, NA19114, NA18856, NA12249, NA18945, NA18576, NA18542, NA18517, NA07051, NA18501, NA18552, NA19129, NA07000, NA12154, NA18965
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3436296
Frequency
Sample Size185
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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