A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15960241



Internal ID5962074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80015300..80058949hg38UCSC Ensembl
Innerchr18:80015300..80058949hg38UCSC Ensembl
Outerchr18:80014800..80059449hg38UCSC Ensembl
chr18:77775300..77818949hg19UCSC Ensembl
Innerchr18:77775300..77818949hg19UCSC Ensembl
Outerchr18:77774800..77819449hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3843650
hg1943650
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643328
Supporting Variants
SamplesNA06984
Known GenesRBFA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15960241
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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