A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641872



Internal ID7028643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:14071666..14280344hg38UCSC Ensembl
Innerchr18:14071692..14280318hg38UCSC Ensembl
Outerchr18:14071640..14280370hg38UCSC Ensembl
chr18:14071665..14280343hg19UCSC Ensembl
Innerchr18:14071691..14280317hg19UCSC Ensembl
Outerchr18:14071639..14280369hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38208679
hg19208679
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15812837, essv15812836
SamplesHG02442, NA19455
Known GenesANKRD20A5P, ZNF519
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641872
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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