A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16445169



Internal ID6304404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46718539..46726926hg38UCSC Ensembl
Innerchr22:46718540..46726926hg38UCSC Ensembl
Outerchr22:46718539..46726927hg38UCSC Ensembl
chr22:47114436..47122823hg19UCSC Ensembl
Innerchr22:47114437..47122823hg19UCSC Ensembl
Outerchr22:47114436..47122824hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg388388
hg198388
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647961
Supporting Variants
SamplesNA19908
Known GenesCERK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16445169
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