A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15846809



Internal ID6489687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:39631671..39680386hg38UCSC Ensembl
Innerchr18:39631722..39680335hg38UCSC Ensembl
Outerchr18:39631620..39680437hg38UCSC Ensembl
chr18:37211635..37260350hg19UCSC Ensembl
Innerchr18:37211686..37260299hg19UCSC Ensembl
Outerchr18:37211584..37260401hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3848716
hg1948716
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642280
Supporting Variants
SamplesNA20529
Known GenesLINC00669, MIR5583-1, MIR5583-2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15846809
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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