A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16186588



Internal ID2763189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:40569099..40573940hg38UCSC Ensembl
Innerchr20:40569099..40573940hg38UCSC Ensembl
Outerchr20:40568987..40574050hg38UCSC Ensembl
chr20:39197739..39202580hg19UCSC Ensembl
Innerchr20:39197739..39202580hg19UCSC Ensembl
Outerchr20:39197627..39202690hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg384842
hg194842
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645827
Supporting Variants
SamplesHG02429
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16186588
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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