A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586993



Internal ID6974420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:102480518..102490013hg38UCSC Ensembl
chr1:102946074..102955569hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg389496
hg199496
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10036185, essv10036183, essv10036184
SamplesNA20518, HG01844, HG03022
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586993
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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