A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15949342



Internal ID4721686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:78243598..78251776hg38UCSC Ensembl
chr18:76003598..76011776hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg388179
hg198179
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643250
Supporting Variants
SamplesNA06984
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15949342
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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