A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645831



Internal ID7032579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:40982032..40983341hg38UCSC Ensembl
Innerchr20:40982194..40983239hg38UCSC Ensembl
Outerchr20:40981869..40983504hg38UCSC Ensembl
chr20:39610672..39611981hg19UCSC Ensembl
Innerchr20:39610834..39611879hg19UCSC Ensembl
Outerchr20:39610509..39612144hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg381310
hg191310
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16186684, essv16186683, essv16186685, essv16186681, essv16186679, essv16186677, essv16186678, essv16186680, essv16186682
SamplesNA20863, HG03679, HG02427, HG03908, NA21118, HG03756, NA21112, HG03848, HG04161
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645831
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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