A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16365231



Internal ID6367047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19257214..19263333hg38UCSC Ensembl
Innerchr22:19257247..19263300hg38UCSC Ensembl
Outerchr22:19257181..19263366hg38UCSC Ensembl
chr22:19244737..19250856hg19UCSC Ensembl
Innerchr22:19244770..19250823hg19UCSC Ensembl
Outerchr22:19244704..19250889hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg386120
hg196120
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647268
Supporting Variants
SamplesNA20856
Known GenesCLTCL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16365231
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