A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645889



Internal ID6685950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:43686024..43756429hg38UCSC Ensembl
chr20:42314664..42385069hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3870406
hg1970406
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16192786
SamplesNA18614
Known GenesGTSF1L, MYBL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645889
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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