A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3401353



Internal ID15248316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:75927281..75927314hg38UCSC Ensembl
Innerchr1:75927286..75927309hg38UCSC Ensembl
Outerchr1:75927253..75927342hg38UCSC Ensembl
chr1:76392966..76392999hg19UCSC Ensembl
Innerchr1:76392971..76392994hg19UCSC Ensembl
Outerchr1:76392938..76393027hg19UCSC Ensembl
chr1:76165554..76165587hg18UCSC Ensembl
Innerchr1:76165582..76165559hg18UCSC Ensembl
Outerchr1:76165526..76165615hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38284
hg19284
hg18284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8899458, essv8899464, essv8899463, essv8899461, essv8899465, essv8899460, essv8899462, essv8899466
SamplesNA12004, NA18510, NA07346, NA18964, NA12003, NA18517, NA07037, NA18501
Known GenesASB17
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3401353
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer