A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15871610



Internal ID5272785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:52199785..52230846hg38UCSC Ensembl
chr18:49726155..49757216hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3831062
hg1931062
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642542
Supporting Variants
SamplesNA18642
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15871610
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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