A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642433



Internal ID7029203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46371708..46374453hg38UCSC Ensembl
Innerchr18:46371740..46374421hg38UCSC Ensembl
Outerchr18:46371676..46374485hg38UCSC Ensembl
chr18:43951671..43954416hg19UCSC Ensembl
Innerchr18:43951703..43954384hg19UCSC Ensembl
Outerchr18:43951639..43954448hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg382746
hg192746
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15857841
SamplesNA19210
Known GenesRNF165
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642433
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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