A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15837703



Internal ID5839519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31801423..31902584hg38UCSC Ensembl
chr18:29381386..29482547hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38101162
hg19101162
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642136
Supporting Variants
SamplesHG02292
Known GenesTRAPPC8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15837703
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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