A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674669



Internal ID9594088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:48125962..48515172hg38UCSC Ensembl
Outerchr20:48125928..48515207hg38UCSC Ensembl
Innerchr20:46754705..47131710hg19UCSC Ensembl
Outerchr20:46754671..47131745hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38389280
hg19377075
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv792e199
Supporting Variantsessv5918478, essv6308121
SamplesNA18519, NA20799
Known GenesLINC00494
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674669
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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