A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642996



Internal ID7029765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:70752698..70772684hg38UCSC Ensembl
chr18:68419934..68439920hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg3819987
hg1919987
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15931528, essv15931527
SamplesNA06984, NA20289
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642996
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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