A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15771610



Internal ID5773426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:128077..323706hg38UCSC Ensembl
chr18:128077..323706hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38195630
hg19195630
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641473
Supporting Variants
SamplesNA12827
Known GenesCOLEC12, THOC1, USP14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15771610
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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