A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15961904



Internal ID5963720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80225317..80242203hg38UCSC Ensembl
chr18:77983200..78000086hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3816887
hg1916887
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643338
Supporting Variants
SamplesNA06984
Known GenesPARD6G
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15961904
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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