A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16218508



Internal ID5662040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56681567..56685663hg38UCSC Ensembl
Innerchr20:56681582..56685649hg38UCSC Ensembl
Outerchr20:56681553..56685678hg38UCSC Ensembl
chr20:55256623..55260719hg19UCSC Ensembl
Innerchr20:55256638..55260705hg19UCSC Ensembl
Outerchr20:55256609..55260734hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg384097
hg194097
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646200
Supporting Variants
SamplesNA19072
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16218508
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