A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642280



Internal ID6682361
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15846809
SamplesNA20529
Known GenesLINC00669, MIR5583-1, MIR5583-2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642280
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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