A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642461



Internal ID7029231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47635653..47643491hg38UCSC Ensembl
Innerchr18:47636153..47642991hg38UCSC Ensembl
Outerchr18:47634653..47644491hg38UCSC Ensembl
chr18:45162024..45169862hg19UCSC Ensembl
Innerchr18:45162524..45169362hg19UCSC Ensembl
Outerchr18:45161024..45170862hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg387839
hg197839
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15860264, essv15860265
SamplesHG02138, HG02353
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642461
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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