A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642938



Internal ID7029707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:68458614..68508726hg38UCSC Ensembl
Innerchr18:68458614..68508726hg38UCSC Ensembl
Outerchr18:68458114..68509226hg38UCSC Ensembl
chr18:66125851..66175963hg19UCSC Ensembl
Innerchr18:66125851..66175963hg19UCSC Ensembl
Outerchr18:66125351..66176463hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg3850113
hg1950113
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv631e214
Supporting Variantsessv15920794, essv15920795
SamplesHG02394, HG03061
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642938
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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