A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15772314



Internal ID1723934
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
SamplesHG01600
Known GenesCOLEC12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15772314
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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