A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587579



Internal ID6975002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153189290..153192697hg38UCSC Ensembl
chr1:153161766..153165173hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg383408
hg193408
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10151140, essv10151141, essv10151142, essv10151139
SamplesNA20127, HG01989, HG00288, HG03351
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587579
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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