A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15846821



Internal ID3795171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:39748743..39753067hg38UCSC Ensembl
chr18:37328707..37333031hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg384325
hg194325
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642286
Supporting Variants
SamplesHG03442
Known GenesLINC00669
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15846821
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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