A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633627



Internal ID7020435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113867928..113876833hg38UCSC Ensembl
chr13:114570901..114579806hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg388906
hg198906
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14909847, essv14909845, essv14909846
SamplesNA20757, HG00739, NA20581
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633627
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