A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15772313



Internal ID1677792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:340895..344933hg38UCSC Ensembl
chr18:340895..344933hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg384039
hg194039
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641484
Supporting Variants
SamplesHG01537
Known GenesCOLEC12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15772313
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