A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12019366



Internal ID6139059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111291713..111294404hg38UCSC Ensembl
Innerchr5:111291739..111294379hg38UCSC Ensembl
Outerchr5:111291688..111294430hg38UCSC Ensembl
chr5:110627411..110630102hg19UCSC Ensembl
Innerchr5:110627437..110630077hg19UCSC Ensembl
Outerchr5:110627386..110630128hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg382692
hg192692
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606267
Supporting Variants
SamplesNA19676
Known GenesCAMK4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12019366
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