A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16319372



Internal ID2566381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36105568..36212546hg38UCSC Ensembl
Innerchr21:36105718..36212396hg38UCSC Ensembl
Outerchr21:36105418..36212696hg38UCSC Ensembl
chr21:37477866..37584844hg19UCSC Ensembl
Innerchr21:37478016..37584694hg19UCSC Ensembl
Outerchr21:37477716..37584994hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38106979
hg19106979
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646962
Supporting Variants
SamplesHG02277
Known GenesCBR3, CBR3-AS1, DOPEY2, LOC100133286
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16319372
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