A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586510



Internal ID6974030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:76877988..76887691hg38UCSC Ensembl
Innerchr1:76877995..76887684hg38UCSC Ensembl
Outerchr1:76877981..76887698hg38UCSC Ensembl
chr1:77343673..77353376hg19UCSC Ensembl
Innerchr1:77343680..77353369hg19UCSC Ensembl
Outerchr1:77343666..77353383hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg389704
hg199704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9979354, essv9979355
SamplesHG01933, NA19316
Known GenesST6GALNAC5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586510
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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