A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12019352



Internal ID6392908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111079766..111114644hg38UCSC Ensembl
chr5:110415464..110450342hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3834879
hg1934879
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606263
Supporting Variants
SamplesNA20340
Known GenesWDR36
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12019352
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