A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15955980



Internal ID3286324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79087927..79251969hg38UCSC Ensembl
chr18:76847927..77011969hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38164043
hg19164043
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643288
Supporting Variants
SamplesHG02896
Known GenesATP9B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15955980
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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